{
"uniprot_canonical_ac": "O95602-1",
"uniprot_ac": "O95602",
"uniprot_id": "RPA1_HUMAN",
"mass": {
"chemical_mass": 194811.0,
"monoisotopic_mass": 194811.0
},
"refseq": {
"ac": "NP_056240",
"name": "DNA-directed RNA polymerase I subunit RPA1",
"summary": "The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056240"
},
"gene_names": [
{
"name": "POLR1A",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O95602",
"id": "O95602"
},
{
"name": "A190; AFDCIN; HLD27; RPA1; RPA190; RPA194; RPO1-4; RPO14",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056240",
"id": "NP_056240"
},
{
"name": "POLR1A",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056240",
"id": "NP_056240"
}
],
"protein_names": [
{
"name": "DNA-directed RNA polymerase I subunit RPA1",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O95602"
},
{
"name": "2.7.7.6",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O95602"
},
{
"name": "A190",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O95602"
},
{
"name": "DNA-directed RNA polymerase I largest subunit; DNA-directed RNA polymerase I subunit A1; RNA polymerase I 194 kDa subunit; polymerase (RNA) I polypeptide A, 194kDa; polymerase (RNA) I subunit A",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056240",
"id": "NP_056240"
},
{
"name": "DNA-directed RNA polymerase I largest subunit",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O95602"
},
{
"name": "DNA-directed RNA polymerase I subunit A",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O95602"
},
{
"name": "DNA-directed RNA polymerase I subunit RPA1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056240",
"id": "NP_056240"
},
{
"name": "RNA polymerase I 194 kDa subunit",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O95602"
},
{
"name": "RNA polymerase I subunit A1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O95602"
},
{
"name": "RPA194",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O95602"
}
],
"function": [
{
"annotation": "Analyzed the kinetics of assembly and elongation of the RNA polymerase I complex on endogenous ribosomal genes in the nuclei of living cells with the use of in vivo microscopy [RPA43]",
"evidence": [
{
"database": "RefSeq",
"id": "NP_056240",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056240"
},
{
"database": "PubMed",
"id": "12446911",
"url": "https://glygen.org/publication/PubMed/12446911"
}
]
},
{
"annotation": "DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.",
"evidence": [
{
"database": "UniProtKB",
"id": "B9ZVN9",
"url": "https://www.uniprot.org/uniprot/B9ZVN9#function"
},
{
"database": "UniProtKB",
"id": "RU004279",
"url": "https://www.uniprot.org/uniprot/RU004279#function"
},
{
"database": "UniProtKB",
"id": "O95602",
"url": "https://www.uniprot.org/uniprot/O95602#function"
},
{
"database": "UniProtKB",
"id": "P10964",
"url": "https://www.uniprot.org/uniprot/P10964#function"
}
]
},
{
"annotation": "Expression of RNA polymerase I catalytic core is influenced by RPA12. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_056240",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056240"
},
{
"database": "PubMed",
"id": "37167337",
"url": "https://glygen.org/publication/PubMed/37167337"
}
]
},
{
"annotation": "POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_056240",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056240"
},
{
"database": "PubMed",
"id": "37075751",
"url": "https://glygen.org/publication/PubMed/37075751"
}
]
},
{
"annotation": "The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_056240",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056240"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0060353",
"recommended_name": {
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060353",
"name": "acrofacial dysostosis Cincinnati type",
"description": "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11."
},
"synonyms": [
{
"id": "MONDO:0014651",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014651",
"name": "acrofacial dysostosis Cincinnati type",
"description": "Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene."
},
{
"id": "MONDO:0014651",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014651",
"name": "POLR1A acrofacial dysostosis",
"description": ""
},
{
"id": "MONDO:0014651",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014651",
"name": "acrofacial dysostosis caused by mutation in POLR1A",
"description": ""
},
{
"id": "MONDO:0014651",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014651",
"name": "AFDCIN",
"description": ""
},
{
"id": "MONDO:0014651",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014651",
"name": "acrofacial dysostosis, Cincinnati type",
"description": ""
},
{
"id": "MIM:616462",
"resource": "MIM",
"url": "https://www.omim.org/entry/616462",
"name": "Acrofacial dysostosis, Cincinnati type",
"description": "Acrofacial dysostosis, Cincinnati type"
}
],
"evidence": [
{
"id": "616462",
"database": "MIM",
"url": "https://www.omim.org/entry/616462"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "O95602",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95602"
}
],
"glycoeffect": [],
"start_pos": 518,
"end_pos": 518,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "V",
"sequence_mut": "M",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "2",
"chr_pos": "86075089",
"ref_nt": "C",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "V518",
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectum neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "CRC",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "large intestine cancer",
"description": ""
},
{
"id": "MIM:114500",
"resource": "MIM",
"url": "https://www.omim.org/entry/114500",
"name": "Colorectal cancer",
"description": "Colorectal cancer"
}
]
},
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
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},
{
"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"
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{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
},
{
"disease_id": "DOID:11054",
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"url": "http://disease-ontology.org/term/DOID:11054",
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},
{
"id": "DOID:11054",
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"url": "http://disease-ontology.org/term/DOID:11054",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"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",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumor of the bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
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},
{
"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",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
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},
{
"id": "MONDO:0001187",
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"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",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
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},
{
"id": "MONDO:0001187",
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"name": "urinary bladder cancer",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
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},
{
"id": "MONDO:0001187",
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"name": "urinary bladder malignant tumor",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
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},
{
"id": "MIM:109800",
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"name": "Bladder cancer",
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]
}
],
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]
},
{
"evidence": [
{
"id": "O95602",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95602"
}
],
"glycoeffect": [],
"start_pos": 869,
"end_pos": 869,
"subjects_tested": "87",
"subjects_positive": "1",
"frequency": "1.1",
"sequence_org": "V",
"sequence_mut": "G",
"comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).",
"chr_id": "2",
"chr_pos": "86048912",
"ref_nt": "A",
"alt_nt": "C",
"minor_allelic_frequency": "",
"site_lbl": "V869",
"disease": [
{
"disease_id": "DOID:1790",
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"url": "http://disease-ontology.org/term/DOID:1790",
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},
"synonyms": [
{
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},
{
"id": "DOID:1790",
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"url": "http://disease-ontology.org/term/DOID:1790",
"name": "advanced malignant mesothelioma",
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},
{
"id": "DOID:1790",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1790",
"name": "asbestos-related malignant mesothelioma",
"description": ""
},
{
"id": "DOID:1790",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1790",
"name": "malignant tumor of Mesothelium",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "malignant mesothelioma",
"description": "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos."
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "malignant mesothelial tumor",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "malignant mesothelial tumour",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "malignant mesothelioma",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "malignant mesothelioma (disease)",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "malignant neoplasm of mesothelium",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "malignant neoplasm of the mesothelium",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "malignant tumor of mesothelium",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "malignant tumor of the mesothelium",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "malignant tumour of mesothelium",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "malignant tumour of the mesothelium",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "mesothelioma, malignant",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "mesothelioma, somatic",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "advanced malignant mesothelioma",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "asbestos-related malignant mesothelioma",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "diffuse malignant mesothelioma",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "malignant mesothelial neoplasm",
"description": ""
},
{
"id": "MONDO:0006292",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0006292",
"name": "MESOM",
"description": ""
},
{
"id": "MIM:156240",
"resource": "MIM",
"url": "https://www.omim.org/entry/156240",
"name": "Mesothelioma, malignant",
"description": "Mesothelioma, malignant"
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
}
],
"mutagenesis": [],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "70.55",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000068654",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000068654"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "66.09",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000068654",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000068654"
}
]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "83.04",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000068654",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000068654"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "80.81",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000068654",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000068654"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "79.19",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000068654",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000068654"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
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"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "72.76",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000068654",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000068654"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "75.6",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000068654",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000068654"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "81.87",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000068654",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000068654"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "77.61",
"present": "HIGH",
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{
"database": "Bgee",
"id": "ENSG00000068654",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000068654"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
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"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "74.82",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000068654",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000068654"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "up",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "O95602",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95602"
}
],
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
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},
{
"id": "DOID:10283",
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"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
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"name": "prostate cancer, familial",
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O95602",
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],
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{
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{
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"resource": "MONDO",
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"name": "gastric cancer",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
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},
{
"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",
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"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",
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},
{
"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",
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"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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{
"id": "DOID:11054",
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},
{
"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": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
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},
{
"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",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumour of urinary bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
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"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",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
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],
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
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"url": "http://disease-ontology.org/term/DOID:1324",
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{
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],
"disease": [
{
"disease_id": "DOID:1324",
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"resource": "Disease Ontology",
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"name": "lung cancer",
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},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"name": "lung cancer susceptibility 1",
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},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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},
{
"id": "MONDO:0012159",
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"name": "lung cancer susceptibility",
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},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O95602",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95602"
}
],
"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": "O95602",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95602"
}
],
"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": "O95602",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95602"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "O95602",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95602"
}
],
"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": "O95602",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95602"
}
],
"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": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O95602",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95602"
}
],
"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",
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"database": "Bgee",
"categories": [
"Gene Expression"
]
},
{
"id": "O95602",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95602",
"database": "BioMuta",
"categories": [
"Variation"
]
},
{
"id": "cd01435",
"url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01435",
"database": "CDD",
"categories": [
"Protein Classification"
]
},
{
"id": "cd02735",
"url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02735",
"database": "CDD",
"categories": [
"Protein Classification"
]
},
{
"id": "CHEMBL3286067",
"url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3286067",
"database": "ChEMBL",
"categories": [
"Other"
]
},
{
"id": "POLR1A",
"url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR1A",
"database": "GeneCards",
"categories": [
"Gene Annotation",
"Organism-specific"
]
},
{
"id": "25885",
"url": "https://www.ncbi.nlm.nih.gov/gene/25885",
"database": "GeneID",
"categories": [
"Genome Annotation"
]
},
{
"id": "17264",
"url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17264",
"database": "HGNC",
"categories": [
"Organism-specific"
]
},
{
"id": "O95602",
"url": "https://www.ebi.ac.uk/intact/interactors/id:O95602*",
"database": "IntAct",
"categories": [
"Other"
]
},
{
"id": "IPR000722",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR000722",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR006592",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR006592",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR007066",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR007066",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR007080",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR007080",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR007081",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR007081",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR007083",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR007083",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR015699",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR015699",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR038120",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR038120",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR042102",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR042102",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR044893",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR044893",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR045867",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR045867",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR047107",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR047107",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "hsa:25885",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:25885",
"database": "KEGG Pathway",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "616404",
"url": "http://www.omim.org/entry/616404",
"database": "MIM",
"categories": [
"Other"
]
},
{
"id": "616462",
"url": "http://www.omim.org/entry/616462",
"database": "MIM",
"categories": [
"Other"
]
},
{
"id": "NX_O95602",
"url": "https://www.nextprot.org/entry/NX_O95602",
"database": "neXtProt",
"categories": [
"Protein",
"Organism-specific"
]
},
{
"id": "NREDYQQ",
"url": "https://omabrowser.org/oma/group/NREDYQQ/",
"database": "OMA",
"categories": [
"Protein Classification"
]
},
{
"id": "169836at2759",
"url": "http://www.orthodb.org/?query=169836at2759",
"database": "OrthoDB",
"categories": [
"Protein Classification"
]
},
{
"id": "PTHR19376",
"url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19376",
"database": "PANTHER",
"categories": [
"Protein Classification"
]
},
{
"id": "PTHR19376:SF11",
"url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19376:SF11",
"database": "PANTHER",
"categories": [
"Protein Classification"
]
},
{
"id": "7OB9",
"url": "https://www.rcsb.org/structure/7OB9",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "7OBA",
"url": "https://www.rcsb.org/structure/7OBA",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "7OBB",
"url": "https://www.rcsb.org/structure/7OBB",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "7VBA",
"url": "https://www.rcsb.org/structure/7VBA",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "7VBB",
"url": "https://www.rcsb.org/structure/7VBB",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "7VBC",
"url": "https://www.rcsb.org/structure/7VBC",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "8A43",
"url": "https://www.rcsb.org/structure/8A43",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "PF00623",
"url": "http://pfam.xfam.org/family/PF00623",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF04983",
"url": "http://pfam.xfam.org/family/PF04983",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF04997",
"url": "http://pfam.xfam.org/family/PF04997",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF04998",
"url": "http://pfam.xfam.org/family/PF04998",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF05000",
"url": "http://pfam.xfam.org/family/PF05000",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "O95602",
"url": "https://pharos.nih.gov/targets/O95602",
"database": "PHAROS",
"categories": [
"Organism-specific"
]
},
{
"id": "PR_O95602",
"url": "http://purl.obolibrary.org/obo/PR_O95602",
"database": "PRO",
"categories": [
"Protein"
]
},
{
"id": "R-HSA-427413",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427413",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-5250924",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250924",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-73762",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-73772",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73772",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-73863",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73863",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "NP_056240",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_056240",
"database": "RefSeq",
"categories": [
"Protein"
]
},
{
"id": "21248",
"url": "https://www.rhea-db.org/rhea/21248",
"database": "Rhea",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "B9ZVN9",
"url": "https://www.uniprot.org/uniprot/B9ZVN9",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "B9ZVN9-1",
"url": "https://www.uniprot.org/uniprot/B9ZVN9-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F2Z3I7",
"url": "https://www.uniprot.org/uniprot/F2Z3I7",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F2Z3I7-1",
"url": "https://www.uniprot.org/uniprot/F2Z3I7-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O95602",
"url": "https://www.uniprot.org/uniprot/O95602",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O95602-1",
"url": "https://www.uniprot.org/uniprot/O95602-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
}
],
"sequence": {
"sequence": "MLISKNMPWRRLQGISFGMYSAEELKKLSVKSITNPRYLDSLGNPSANGLYDLALGPADSKEVCSTCVQDFSNCSGHLGHIELPLTVYNPLLFDKLYLLLRGSCLNCHMLTCPRAVIHLLLCQLRVLEVGALQAVYELERILNRFLEENPDPSASEIREELEQYTTEIVQNNLLGSQGAHVKNVCESKSKLIALFWKAHMNAKRCPHCKTGRSVVRKEHNSKLTITFPAMVHRTAGQKDSEPLGIEEAQIGKRGYLTPTSAREHLSALWKNEGFFLNYLFSGMDDDGMESRFNPSVFFLDFLVVPPSRYRPVSRLGDQMFTNGQTVNLQAVMKDVVLIRKLLALMAQEQKLPEEVATPTTDEEKDSLIAIDRSFLSTLPGQSLIDKLYNIWIRLQSHVNIVFDSEMDKLMMDKYPGIRQILEKKEGLFRKHMMGKRVDYAARSVICPDMYINTNEIGIPMVFATKLTYPQPVTPWNVQELRQAVINGPNVHPGASMVINEDGSRTALSAVDMTQREAVAKQLLTPATGAPKPQGTKIVCRHVKNGDILLLNRQPTLHRPSIQAHRARILPEEKVLRLHYANCKAYNADFDGDEMNAHFPQSELGRAEAYVLACTDQQYLVPKDGQPLAGLIQDHMVSGASMTTRGCFFTREHYMELVYRGLTDKVGRVKLLSPSILKPFPLWTGKQVVSTLLINIIPEDHIPLNLSGKAKITGKAWVKETPRSVPGFNPDSMCESQVIIREGELLCGVLDKAHYGSSAYGLVHCCYEIYGGETSGKVLTCLARLFTAYLQLYRGFTLGVEDILVKPKADVKRQRIIEESTHCGPQAVRAALNLPEAASYDEVRGKWQDAHLGKDQRDFNMIDLKFKEEVNHYSNEINKACMPFGLHRQFPENSLQMMVQSGAKGSTVNTMQISCLLGQIELEGRRPPLMASGKSLPCFEPYEFTPRAGGFVTGRFLTGIKPPEFFFHCMAGREGLVDTAVKTSRSGYLQRCIIKHLEGLVVQYDLTVRDSDGSVVQFLYGEDGLDIPKTQFLQPKQFPFLASNYEVIMKSQHLHEVLSRADPKKALHHFRAIKKWQSKHPNTLLRRGAFLSYSQKIQEAVKALKLESENRNGRSPGTQEMLRMWYELDEESRRKYQKKAAACPDPSLSVWRPDIYFASVSETFETKVDDYSQEWAAQTEKSYEKSELSLDRLRTLLQLKWQRSLCEPGEAVGLLAAQSIGEPSTQMTLNTFHFAGRGEMNVTLGIPRLREILMVASANIKTPMMSVPVLNTKKALKRVKSLKKQLTRVCLGEVLQKIDVQESFCMEEKQNKFQVYQLRFQFLPHAYYQQEKCLRPEDILRFMETRFFKLLMESIKKKNNKASAFRNVNTRRATQRDLDNAGELGRSRGEQEGDEEEEGHIVDAEAEEGDADASDAKRKEKQEEEVDYESEEEEEREGEENDDEDMQEERNPHREGARKTQEQDEEVGLGTEEDPSLPALLTQPRKPTHSQEPQGPEAMERRVQAVREIHPFIDDYQYDTEESLWCQVTVKLPLMKINFDMSSLVVSLAHGAVIYATKGITRCLLNETTNNKNEKELVLNTEGINLPELFKYAEVLDLRRLYSNDIHAIANTYGIEAALRVIEKEIKDVFAVYGIAVDPRHLSLVADYMCFEGVYKPLNRFGIRSNSSPLQQMTFETSFQFLKQATMLGSHDELRSPSACLVVGKVVRGGTGLFELKQPLR",
"length": 1720,
"header": "sp|O95602-1|RPA1_HUMAN Isoform 1 of DNA-directed RNA polymerase I subunit RPA1 OS=Homo sapiens OX=9606 GN=POLR1A PE=1 SV=2 CANONICAL=O95602-1"
},
"isoforms": [
{
"isoform_ac": "B9ZVN9-1",
"url": "",
"sequence": {
"sequence": "MLISKNMPWRRLQGISFGMYSAEELKKLSVKSITNPRYLDSLGNPSANGLYDLALGPADSKEVCSTCVQDFSNCSGHLGHIELPLTVYNPLLFDKLYLLLRGSCLNCHMLTCPRAVIHLLLCQLRVLEVGALQAVYELERILNRFLEENPDPSASEIREELEQYTTEIVQNNLLGSQGAHVKNVCESKSKLIALFWKAHMNAKRCPHCKTGRSVVRKEHNSKLTITFPAMVHRTAGQKDSEPLGIEEAQIGKRGYLTPTSAREHLSALWKNEGFFLNYLFSGMDDDGMESRFNPSVFFLDFLVVPPSRYRPVSRLGDQMFTNGQTVNLQAVMKDVVLIRKLLALMAQEQKLPEEVATPTTDEEKDSLIAIDRSFLSTLPGQSLIDKLYNIWIRLQSHVNIVFDSEMDKLMMDKYPGIRQILEKKEGLFRKHMMGKRVDYAARSVICPDMYINTNEIGIPMVFATKLTYPQPVTPWNVQELRQAVINGPNVHPGASMVINEDGSRTALSAVDMTQREAVAKQLLTPATGAPKPQGTKIVCRHVKNGDILLLNRQPTLHRPSIQAHRARILPEEKVLRLHYANCKAYNADFDGDEMNAHFPQSELGRAEAYVLACTDQQYLVPKDGQPLAGLIQDHMVSGASMTTRGCFFTREHYMELVYRGLTDKVGRVKLLSPSILKPFPLWTGKQVVSTLLINIIPEDHIPLNLSGKAKITGKAWVKETPRSVPGFNPDSMCESQVIIREGELLCGVLDKAHYGSSAYGLVHCCYEIYGGETSGKVLTCLARLFTAYLQLYRGFTLGVEDILVKPKADVKRQRIIEESTHCGPQAVRAALNLPEAASYDEVRGKWQDAHLGKDQRDFNMIDLKFKEEVNHYSNEINKACMPFGLHRQFPENSLQMMVQSGAKGSTVNTMQISCLLGQIELEGRRPPLMASGKSLPCFEPYEFTPRAGGFVTGRFLTGIKPPEFFFHCMAGREGLVDTAVKTSRSGYLQRCIIKHLEGLVVQYDLTVRDSDGSVVQFLYGEDGLDIPKTQFLQPKQFPFLASNYEVIMKSQHLHEVLSRADPKKALHHFRAIKKWQSKHPNTLLRRGAFLSYSQKIQEAVKALKLESENRNGRSPGTQEMLRMWYELDEESRRKYQKKAAACPDPSLSVWRPDIYFASVSETFETKVDDYSQEWAAQTEKSYEKSELSLDRLRTLLQLKWQRSLCEPGEAVGLLAAQSIGEPSTQMTLNTFHFAGRGEMNVTLGIPRLREILMVASANIKTPMMSVPVLNTKKALKRVKSLKKQLTRVCLGEVLQKIDVQESFCMEEKQNKFQVYQLRFQFLPHAYYQQEKCLRPEDILRFMETRFFKLLMESIKKKNNKASAFRNVNTRRATQRDLDNAGELGRSRGEQEGDEEEEGHIVDAEAEEGDADASDAKRKEKQEEEVDYESEEEEEREGEENDDEDMQEERNPHREGARKTQEQDEEVTVKLPLMKINFDMSSLVVSLAHGAVIYATKGITRCLLNETTNNKNEKELVLNTEGINLPELFKYAEVLDLRRLYSNDIHAIANTYGIEAALRVIEKEIKDVFAVYGIAVDPRHLSLVADYMCFEGVYKPLNRFGIRSNSSPLQQMTFETSFQFLKQATMLGSHDELRSPSACLVVGKVVRGGTGLFELKQPLR",
"length": 1659,
"header": "tr|B9ZVN9-1|RPA1_HUMAN Computationally mapped isoform of DNA-directed RNA polymerase I subunit RPA1 OS=Homo sapiens OX=9606 GN=POLR1A PE=1 SV=1 CANONICAL=O95602-1"
},
"locus": {
"chromosome": "2",
"start_pos": 86105776,
"end_pos": 86027426,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000409681.1",
"url": "https://www.ensembl.org/id/ENST00000409681.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000386300.1",
"url": "https://www.ensembl.org/id/ENSP00000386300.1"
}
]
}
},
{
"isoform_ac": "F2Z3I7-1",
"url": "",
"sequence": {
"sequence": "MLISKNMPWRRLQGISFGMYSAEELNFWKKIPIPLPLKFGRN",
"length": 42,
"header": "tr|F2Z3I7-1|RPA1_HUMAN Computationally mapped isoform of DNA-directed RNA polymerase I subunit RPA1 OS=Homo sapiens OX=9606 GN=POLR1A PE=1 SV=1 CANONICAL=O95602-1"
},
"locus": {
"chromosome": "2",
"start_pos": 86105776,
"end_pos": 86089881,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000409024.3",
"url": "https://www.ensembl.org/id/ENST00000409024.3"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000386423.3",
"url": "https://www.ensembl.org/id/ENSP00000386423.3"
}
]
}
},
{
"isoform_ac": "O95602-1",
"url": "",
"sequence": {
"sequence": "MLISKNMPWRRLQGISFGMYSAEELKKLSVKSITNPRYLDSLGNPSANGLYDLALGPADSKEVCSTCVQDFSNCSGHLGHIELPLTVYNPLLFDKLYLLLRGSCLNCHMLTCPRAVIHLLLCQLRVLEVGALQAVYELERILNRFLEENPDPSASEIREELEQYTTEIVQNNLLGSQGAHVKNVCESKSKLIALFWKAHMNAKRCPHCKTGRSVVRKEHNSKLTITFPAMVHRTAGQKDSEPLGIEEAQIGKRGYLTPTSAREHLSALWKNEGFFLNYLFSGMDDDGMESRFNPSVFFLDFLVVPPSRYRPVSRLGDQMFTNGQTVNLQAVMKDVVLIRKLLALMAQEQKLPEEVATPTTDEEKDSLIAIDRSFLSTLPGQSLIDKLYNIWIRLQSHVNIVFDSEMDKLMMDKYPGIRQILEKKEGLFRKHMMGKRVDYAARSVICPDMYINTNEIGIPMVFATKLTYPQPVTPWNVQELRQAVINGPNVHPGASMVINEDGSRTALSAVDMTQREAVAKQLLTPATGAPKPQGTKIVCRHVKNGDILLLNRQPTLHRPSIQAHRARILPEEKVLRLHYANCKAYNADFDGDEMNAHFPQSELGRAEAYVLACTDQQYLVPKDGQPLAGLIQDHMVSGASMTTRGCFFTREHYMELVYRGLTDKVGRVKLLSPSILKPFPLWTGKQVVSTLLINIIPEDHIPLNLSGKAKITGKAWVKETPRSVPGFNPDSMCESQVIIREGELLCGVLDKAHYGSSAYGLVHCCYEIYGGETSGKVLTCLARLFTAYLQLYRGFTLGVEDILVKPKADVKRQRIIEESTHCGPQAVRAALNLPEAASYDEVRGKWQDAHLGKDQRDFNMIDLKFKEEVNHYSNEINKACMPFGLHRQFPENSLQMMVQSGAKGSTVNTMQISCLLGQIELEGRRPPLMASGKSLPCFEPYEFTPRAGGFVTGRFLTGIKPPEFFFHCMAGREGLVDTAVKTSRSGYLQRCIIKHLEGLVVQYDLTVRDSDGSVVQFLYGEDGLDIPKTQFLQPKQFPFLASNYEVIMKSQHLHEVLSRADPKKALHHFRAIKKWQSKHPNTLLRRGAFLSYSQKIQEAVKALKLESENRNGRSPGTQEMLRMWYELDEESRRKYQKKAAACPDPSLSVWRPDIYFASVSETFETKVDDYSQEWAAQTEKSYEKSELSLDRLRTLLQLKWQRSLCEPGEAVGLLAAQSIGEPSTQMTLNTFHFAGRGEMNVTLGIPRLREILMVASANIKTPMMSVPVLNTKKALKRVKSLKKQLTRVCLGEVLQKIDVQESFCMEEKQNKFQVYQLRFQFLPHAYYQQEKCLRPEDILRFMETRFFKLLMESIKKKNNKASAFRNVNTRRATQRDLDNAGELGRSRGEQEGDEEEEGHIVDAEAEEGDADASDAKRKEKQEEEVDYESEEEEEREGEENDDEDMQEERNPHREGARKTQEQDEEVGLGTEEDPSLPALLTQPRKPTHSQEPQGPEAMERRVQAVREIHPFIDDYQYDTEESLWCQVTVKLPLMKINFDMSSLVVSLAHGAVIYATKGITRCLLNETTNNKNEKELVLNTEGINLPELFKYAEVLDLRRLYSNDIHAIANTYGIEAALRVIEKEIKDVFAVYGIAVDPRHLSLVADYMCFEGVYKPLNRFGIRSNSSPLQQMTFETSFQFLKQATMLGSHDELRSPSACLVVGKVVRGGTGLFELKQPLR",
"length": 1720,
"header": "sp|O95602-1|RPA1_HUMAN Isoform 1 of DNA-directed RNA polymerase I subunit RPA1 OS=Homo sapiens OX=9606 GN=POLR1A PE=1 SV=2 CANONICAL=O95602-1"
},
"locus": {
"chromosome": "2",
"start_pos": 86105776,
"end_pos": 86027426,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000263857.11",
"url": "https://www.ensembl.org/id/ENST00000263857.11"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000263857.6",
"url": "https://www.ensembl.org/id/ENSP00000263857.6"
}
]
}
}
],
"glycosylation": [],
"phosphorylation": [
{
"start_pos": 1386,
"end_pos": 1386,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
"evidence": [
{
"database": "UniProtKB",
"id": "O95602",
"url": "https://www.uniprot.org/uniprot/O95602"
},
{
"database": "PubMed",
"id": "18669648",
"url": "https://glygen.org/publication/PubMed/18669648"
},
{
"database": "iPTMnet",
"id": "O95602",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95602"
}
],
"site_lbl": "Ser1386"
},
{
"start_pos": 1429,
"end_pos": 1429,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O95602",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95602"
},
{
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"sequence": {
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"length": 1664
},
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],
"common_name": "Yeast"
}
],
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"name": "Cellular Component",
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"name": "nuclear lumen",
"id": "GO:0031981",
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"id": "O95602",
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}
],
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},
{
"name": "nucleoplasm",
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"id": "O95602",
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],
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{
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},
{
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],
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}
]
},
{
"name": "Molecular Function",
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"id": "GO:0003677",
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"id": "O95602",
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}
],
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},
{
"name": "DNA-directed 5'-3' RNA polymerase activity",
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],
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},
{
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"id": "O95602",
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}
],
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},
{
"name": "chromatin binding",
"id": "GO:0003682",
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{
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"id": "O95602",
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}
],
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},
{
"name": "metal ion binding",
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"id": "O95602",
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}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 2,
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{
"name": "DNA-templated transcription",
"id": "GO:0006351",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351",
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{
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"id": "O95602",
"url": "https://www.uniprot.org/uniprot/O95602"
}
],
"pmid": ""
},
{
"name": "negative regulation of protein localization to nucleolus",
"id": "GO:1904750",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904750",
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{
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"id": "O95602",
"url": "https://www.uniprot.org/uniprot/O95602"
}
],
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}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
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"end_pos": 1242,
"annotation": "n_glycosylation_sequon"
},
{
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"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1665,
"end_pos": 1667,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 704,
"end_pos": 706,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 73,
"end_pos": 75,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "21248",
"name": "",
"equation": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1)",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O54889-1",
"O54888-1",
"E9PTB6-1",
"D4A5A6-1",
"G3V8Y5-1",
"D3ZV30-1",
"D3ZYB6-1",
"O00411-1",
"O95602-1",
"P24928-1",
"P30876-1",
"Q9H9Y6-1",
"O14802-1",
"Q9NW08-1",
"P08775-1",
"O35134-1",
"Q8CFI7-1",
"Q8BKF1-1",
"P70700-1",
"P59470-1",
"B2RXC6-1",
"P13433-1",
"P22276-1",
"P04050-1",
"P04051-1",
"P08518-1",
"P10964-1",
"P22138-1",
"Q54EH7-1",
"Q54H25-1",
"Q54J75-1",
"Q86AQ5-1",
"Q86H36-1",
"P35084-1",
"Q95NZ8-1",
"Q54BM1-1",
"Q54IZ9-1",
"Q54UI6-1",
"P25167-1",
"P04052-1",
"P08266-1",
"P91875-1",
"P20028-1",
"Q9VPW4-1",
"A8JUY3-1"
],
"evidence": [
{
"id": "21248",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/21248"
}
]
},
{
"id": "R-HSA-427366",
"name": "Transcription of intergenic spacer of the rRNA gene",
"equation": "",
"summary": "As inferred from mouse cell models, intergenic spacer regions (IGS) located between rRNA transcription units contain upstream promoters and are transcribed by RNA Polymerase I. The IGS transcripts originate approximately 2 Kb upstream of the start of rRNA transcription and proceed though the main promoter of the rRNA gene.",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-9628684"
],
"output_participant_list": [
"R-HSA-427364"
],
"enzyme_list": [
"P18074-1",
"Q9H9Y6-1",
"P50613-1",
"P19447-1",
"O95602-1"
],
"evidence": [
{
"id": "R-HSA-427366",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427366"
}
]
},
{
"id": "R-HSA-5250930",
"name": "B-WICH recruits histone acetyltransferases",
"equation": "",
"summary": "Direct interactions between BAZ1B (WSTF) and histone acetyltransferases KAT2B, KAT2A, and EP300 are weak (Vintermist et al. 2011) so the acetyltransferases may interact with other subunits of B\u2011WICH or with proteins not in the B\u2011WICH complex. The ERCC6 (CSB) component of B\u2011WICH and MYOIC interact with KAT2B (PCAF) (Sarshad et al. 2013, Shen et al. 2013). The histone acetyltransferases are believed to acetylate histone H3 at lysine\u20119 in rDNA since this modification is reduced in WSTF and MYOIC knockdown cells (Vintermist et al. 2011, Sarshad et al. 2013). Knockdown of KAT2B causes loss of acetylation on histone H4 and on histone H3 at lysine\u20119 (Shen et al. 2013).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q92830-1",
"Q9NR30-1",
"Q03468-1",
"Q9H9Y6-1",
"Q09472-1",
"O60264-1",
"Q9UIG0-1",
"Q92831-1",
"O95602-1"
],
"evidence": [
{
"id": "R-HSA-5250930",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250930"
}
]
},
{
"id": "R-HSA-5250938",
"name": "B-WICH:histone acetyltransferase acetylates histone H3 at lysine-9",
"equation": "",
"summary": "Histone acetyltransferases recruited by the B\u2011WICH complex acetylate histone H3 at lysine\u20119. Knockdown of the BAZ1B (WSTF) and MYOIC components of B\u2011WICH cause a loss of histone acetyltransferases KAT2B (PCAF), KAT2A (GCN5), and EP300 (p300) and a reduction of acetylated histone H3. Knockdown of KAT2B (PCAF) causes a reduction in acetylation of histone H3 at lysine\u20119, leading to reduced rRNA synthesis levels (Sarshad et al. 2013, Shen et al. 2013).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q92830-1",
"Q9NR30-1",
"Q03468-1",
"Q9H9Y6-1",
"Q09472-1",
"O60264-1",
"Q9UIG0-1",
"Q92831-1",
"O95602-1"
],
"evidence": [
{
"id": "R-HSA-5250938",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250938"
}
]
},
{
"id": "R-HSA-5250947",
"name": "B-WICH complex binds rDNA promoter",
"equation": "",
"summary": "Active rRNA genes are bound by the B\u2011WICH multiprotein complex (Cavellan et al. 2006, Percipalle et al. 2006). B-WICH binds the promoter region of the gene (Percipalle et al. 2006, Sarshad et al. 2013). The MYO1C component of the B-WICH complex binds chromatin and interacts with SMARCA5. Binding causes 200 bp of chromatin at the promoter to adopt a more open configuration and contributes to epigenetic modifications compatible with transcription activation (Vintermist et al. 2011, Sarshad et al. 2013). At the rRNA gene promoter the SMARCA5-MYOIC interaction is excluded when MYOIC interacts with actin in complex with RNA polymerase I (Sarshad et al. 2013). Binding of MYOIC to chromatin is regulated by GSK3beta-dependent phosphorylation that targets the MYOIC chromatin binding domain (Sarshad et al. 2014). Binding of MYOIC to the RNA polymerase I is partly mediated via phosphorylated TIF1A (Philimonenko et al. 2004). Binding of B\u2011WICH to rRNA genes requires MYOIC to be recruited to active rRNA genes and this mechanism appears to be a requirement to activate and maintain transcription by RNA polymerase I (Percipalle et al. 2006, Sarshad et al. 2013, Sarshad et al. 2014, reviewed in Sarshad and Percipalle 2014).",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-ALL-73682",
"R-HSA-417140",
"R-HSA-417153",
"R-HSA-5250643",
"R-HSA-5250650",
"R-HSA-5250652",
"R-HSA-71968",
"R-HSA-73859"
],
"output_participant_list": [
"R-HSA-3321990"
],
"enzyme_list": [
"Q9NR30-1",
"Q03468-1",
"Q9H9Y6-1",
"P60709-1",
"P49841-1",
"O60264-1",
"Q9UIG0-1",
"O95602-1"
],
"evidence": [
{
"id": "R-HSA-5250947",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250947"
}
]
},
{
"id": "R-HSA-73757",
"name": "Binding of RRN3 to RNA Polymerase I",
"equation": "",
"summary": "After the assembly of the RNA Polymerase I Holoenzyme, Rrn3 binding occurs (Engel et al. 2016, Pilsl et al. 2016).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9H9Y6-1",
"O95602-1"
],
"evidence": [
{
"id": "R-HSA-73757",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73757"
}
]
},
{
"id": "R-HSA-73758",
"name": "Recruitment of Active RNA Polymerase I to SL1:phos.UBF-1:rDNA Promoter",
"equation": "",
"summary": "Composed of Acetylated SL1, phosphorylated UBF-1 bound the rDNA promoter as well as the active RNA polymerase holoenzyme, rrn3 and TFIIH the transcription initiation complex is complete. The assembly picture is incomplete, as the point at which TFIIH joins the complex is unknown, though by the time that this complex is formed TFIIH is present (it has been included at this step for completeness). This forms the transcriptionally active enzyme, that is capable of initiating transcription from the rDNA promoter.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P18074-1",
"Q9H9Y6-1",
"P50613-1",
"P19447-1",
"O95602-1"
],
"evidence": [
{
"id": "R-HSA-73758",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73758"
}
]
},
{
"id": "R-HSA-73769",
"name": "Loss of Rrn3 from RNA Polymerase I promoter escape complex",
"equation": "",
"summary": "Upon transcription initiation it is thought that RRN3 is inactivated and dissociates from the Loss of Rrn3 from the RNA Polymerase I promoter escape complex. SL1 and UBF are thought to remain bound to the promoter for multiple rounds of transcription initiation",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P18074-1",
"Q9H9Y6-1",
"P50613-1",
"P19447-1",
"O95602-1"
],
"evidence": [
{
"id": "R-HSA-73769",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73769"
}
]
},
{
"id": "R-HSA-73865",
"name": "Assembly of RNA Polymerase I Holoenzyme (human)",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of each of POLR1A (RPA190, A194), POLR1B (RPA135), POLR1C (RPA40), POLR1D (RPA19), POLR1E (PAF53, RPA49), POLR2E (RPB5), POLR2F (RPB6), POLR2H (RPB8), POLR2K (RPABC4, RPB12), POLR2L (RPB10), TWISTNB (RPA43), CD3EAP (CAST, PAF49), and ZNRD1 (RPA12) are present. At the end of this reaction, 1 molecule of 'RNA Polymerase I Holoenzyme (Human)' is present.
This reaction takes place in the 'nucleolus'.
",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-5419289",
"R-HSA-5419290",
"R-HSA-5419292",
"R-HSA-5419294",
"R-HSA-63494",
"R-HSA-63496",
"R-HSA-63498",
"R-HSA-63500",
"R-HSA-63523",
"R-HSA-63537",
"R-HSA-83713",
"R-HSA-83714",
"R-HSA-83715"
],
"output_participant_list": [],
"enzyme_list": [
"Q9H9Y6-1",
"O95602-1"
],
"evidence": [
{
"id": "R-HSA-73865",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73865"
}
]
},
{
"id": "R-HSA-74986",
"name": "Elongation of pre-rRNA transcript",
"equation": "",
"summary": "At the beginning of this reaction, 1 molecule of 'elongating pre-rRNA transcript', and 1 molecule of 'NTP' are present. At the end of this reaction, 1 molecule of 'elongating pre-rRNA transcript' is present.
This reaction takes place in the 'nucleolus' and is mediated by the 'DNA-directed RNA polymerase activity' of 'RNA Polymerase I promoter escape complex'.
",
"cellular_location": "nucleolus",
"input_participant_list": [],
"output_participant_list": [
"R-ALL-74985"
],
"enzyme_list": [
"P18074-1",
"Q9H9Y6-1",
"P50613-1",
"P19447-1",
"O95602-1"
],
"evidence": [
{
"id": "R-HSA-74986",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74986"
}
]
},
{
"id": "R-HSA-74992",
"name": "Dissociation of PTRF:Polymerase I/Nascent Pre rRNA Complex:TTF-I:Sal Box",
"equation": "",
"summary": "PTRF binds the quaternary complex and mediates the dissociation of paused complex. PTRF interacts with the RNA polymerase I largest subunit (p194), TTF-I and the U-rich 3' end of the nascent pre-rRNA.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P18074-1",
"Q9H9Y6-1",
"P50613-1",
"P19447-1",
"O95602-1"
],
"evidence": [
{
"id": "R-HSA-74992",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74992"
}
]
},
{
"id": "R-HSA-74993",
"name": "PTRF Binds the Polymerase I Transcription Complex/Nascent Pre rRNA Complex paused at the TTF-I:Sal Box",
"equation": "",
"summary": "Dissociation of paused ternary complexes requires the Polymerase I-transcript release factor (PTRF) a leucine zipper protein. PTRF is capable of dissociating ternary Pol I transcription complexes, interacting with both TTF-I and Pol I to mediate the release of both Pol I and nascent transcripts from the template.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P18074-1",
"Q9H9Y6-1",
"P50613-1",
"P19447-1",
"O95602-1"
],
"evidence": [
{
"id": "R-HSA-74993",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74993"
}
]
},
{
"id": "R-HSA-74994",
"name": "Polymerase I Transcription Complex/Nascent Pre rRNA Complex pauses at the TTF-I:Sal Box",
"equation": "",
"summary": "The Polymerase I promoter escape complex/with the now complete nascent pre rRNA transcript pauses at the TTF-I bound Sal Box (Reiter et al.2012).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P18074-1",
"Q9H9Y6-1",
"P50613-1",
"P19447-1",
"O95602-1"
],
"evidence": [
{
"id": "R-HSA-74994",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-74994"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-73682",
"participant_name": "rDNA Promoter [nucleoplasm]",
"crossref": [
{
"id": "61120",
"database": "ChEBI",
"url": ""
},
{
"id": "61120",
"database": "ChEBI",
"url": ""
},
{
"id": "61120",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-ALL-74985",
"participant_name": "elongating pre-rRNA transcript [nucleoplasm]",
"crossref": [
{
"id": "33697",
"database": "ChEBI",
"url": ""
},
{
"id": "33697",
"database": "ChEBI",
"url": ""
},
{
"id": "33697",
"database": "ChEBI",
"url": ""
},
{
"id": "33697",
"database": "ChEBI",
"url": ""
},
{
"id": "33697",
"database": "ChEBI",
"url": ""
},
{
"id": "33697",
"database": "ChEBI",
"url": ""
},
{
"id": "33697",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-HSA-3321990",
"participant_name": "ACTB(1-375) [nucleoplasm]",
"crossref": [
{
"id": "ENSP00000495995",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000075624-ACTB",
"database": "HPA",
"url": ""
},
{
"id": "7VDV",
"database": "PDB",
"url": ""
},
{
"id": "6OX4",
"database": "PDB",
"url": ""
},
{
"id": "6MBK",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000642480",
"database": "Ensembl",
"url": ""
},
{
"id": "6OX5",
"database": "PDB",
"url": ""
},
{
"id": "P60709",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "7W28",
"database": "PDB",
"url": ""
},
{
"id": "6ICV",
"database": "PDB",
"url": ""
},
{
"id": "6OX2",
"database": "PDB",
"url": ""
},
{
"id": "6WK2",
"database": "PDB",
"url": ""
},
{
"id": "6OX3",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000646664",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000075624",
"database": "Ensembl",
"url": ""
},
{
"id": "3BYH",
"database": "PDB",
"url": ""
},
{
"id": "3LUE",
"database": "PDB",
"url": ""
},
{
"id": "7AS4",
"database": "PDB",
"url": ""
},
{
"id": "3J82",
"database": "PDB",
"url": ""
},
{
"id": "6MBL",
"database": "PDB",
"url": ""
},
{
"id": "6OX0",
"database": "PDB",
"url": ""
},
{
"id": "6WK1",
"database": "PDB",
"url": ""
},
{
"id": "6OX1",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000494750",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_001092.1",
"database": "RefSeq",
"url": ""
},
{
"id": "6MBJ",
"database": "PDB",
"url": ""
},
{
"id": "6NBW",
"database": "PDB",
"url": ""
},
{
"id": "8DNH",
"database": "PDB",
"url": ""
},
{
"id": "P60709",
"database": "PRO",
"url": ""
},
{
"id": "17409",
"database": "Orphanet",
"url": ""
},
{
"id": "ENSP00000494269",
"database": "Ensembl",
"url": ""
},
{
"id": "6V62",
"database": "PDB",
"url": ""
},
{
"id": "7QJ9",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000675515",
"database": "Ensembl",
"url": ""
},
{
"id": "6ANU",
"database": "PDB",
"url": ""
},
{
"id": "7W29",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000493945",
"database": "Ensembl",
"url": ""
},
{
"id": "P60709",
"database": "UniProt",
"url": ""
},
{
"id": "ENST00000674681",
"database": "Ensembl",
"url": ""
},
{
"id": "P60709",
"database": "GeneCards",
"url": ""
},
{
"id": "7QJ6",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000075624",
"database": "OpenTargets",
"url": ""
},
{
"id": "ENSP00000502821",
"database": "Ensembl",
"url": ""
},
{
"id": "6ICT",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000501862",
"database": "Ensembl",
"url": ""
},
{
"id": "7P1H",
"database": "PDB",
"url": ""
},
{
"id": "3D2U",
"database": "PDB",
"url": ""
},
{
"id": "6LTJ",
"database": "PDB",
"url": ""
},
{
"id": "6V63",
"database": "PDB",
"url": ""
}
]
},
{
"participant_id": "R-HSA-417140",
"participant_name": "SMARCA5 [nucleoplasm]",
"crossref": [
{
"id": "O60264",
"database": "UniProt",
"url": ""
},
{
"id": "O60264",
"database": "GeneCards",
"url": ""
},
{
"id": "O60264",
"database": "PRO",
"url": ""
},
{
"id": "NP_003592.3",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSG00000153147-SMARCA5",
"database": "HPA",
"url": ""
},
{
"id": "ENSG00000153147",
"database": "OpenTargets",
"url": ""
},
{
"id": "ENST00000283131",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000283131",
"database": "Ensembl",
"url": ""
},
{
"id": "22572",
"database": "Orphanet",
"url": ""
},
{
"id": "O60264",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "ENSG00000153147",
"database": "Ensembl",
"url": ""
},
{
"id": "6NE3",
"database": "PDB",
"url": ""
}
]
},
{
"participant_id": "R-HSA-417153",
"participant_name": "BAZ1B [nucleoplasm]",
"crossref": [
{
"id": "Q9UIG0",
"database": "UniProt",
"url": ""
},
{
"id": "Q9UIG0",
"database": "GeneCards",
"url": ""
},
{
"id": "Q9UIG0",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "15351",
"database": "Orphanet",
"url": ""
},
{
"id": "1F62",
"database": "PDB",
"url": ""
},
{
"id": "Q9UIG0",
"database": "PRO",
"url": ""
},
{
"id": "XP_016868262.1",
"database": "RefSeq",
"url": ""
},
{
"id": "NP_115784.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSG00000009954",
"database": "OpenTargets",
"url": ""
},
{
"id": "ENSP00000385442",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000009954-BAZ1B",
"database": "HPA",
"url": ""
},
{
"id": "ENST00000339594",
"database": "Ensembl",
"url": ""
},
{
"id": "2774",
"database": "Guide to Pharmacology - Targets",
"url": ""
},
{
"id": "5NNF",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000009954",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000342434",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000404251",
"database": "Ensembl",
"url": ""
}
]
},
{
"participant_id": "R-HSA-427364",
"participant_name": "Intergenic rRNA transcript [nucleoplasm]",
"crossref": [
{
"id": "33697",
"database": "ChEBI",
"url": ""
},
{
"id": "NR_046235",
"database": "NCBI Nucleotide",
"url": ""
},
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