{
"uniprot_canonical_ac": "O75688-1",
"uniprot_ac": "O75688",
"uniprot_id": "PPM1B_HUMAN",
"mass": {
"chemical_mass": 52643.0,
"monoisotopic_mass": 52643.0
},
"refseq": {
"ac": "NP_001028729",
"name": "protein phosphatase 1B isoform 5",
"summary": "The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional transcript variants have been described, but currently do not represent full-length sequences. [provided by RefSeq, Jul 2008].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028729"
},
"gene_names": [
{
"name": "PPM1B",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O75688",
"id": "O75688"
},
{
"name": "PP2C-beta; PP2C-beta-X; PP2CB; PP2CBETA; PPC2BETAX",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028729",
"id": "NP_001028729"
},
{
"name": "PP2CB",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O75688",
"id": "O75688"
},
{
"name": "PPM1B",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028729",
"id": "NP_001028729"
}
],
"protein_names": [
{
"name": "Protein phosphatase 1B",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O75688"
},
{
"name": "3.1.3.16",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O75688"
},
{
"name": "PP2C-beta",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O75688"
},
{
"name": "Protein phosphatase 2C isoform beta",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O75688"
},
{
"name": "protein phosphatase 1B isoform 5",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028729",
"id": "NP_001028729"
},
{
"name": "protein phosphatase 2C-like protein; protein phosphatase 1B",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028729",
"id": "NP_001028729"
}
],
"function": [
{
"annotation": "Enzyme with a broad specificity. Dephosphorylates CDK2 and CDK6 in vitro. Dephosphorylates PRKAA1 and PRKAA2. Inhibits TBK1-mediated antiviral signaling by dephosphorylating it at 'Ser-172'. Plays an important role in the termination of TNF-alpha-mediated NF-kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB.",
"evidence": [
{
"database": "UniProtKB",
"id": "O75688",
"url": "https://www.uniprot.org/uniprot/O75688#function"
},
{
"database": "PubMed",
"id": "22750291",
"url": "https://glygen.org/publication/PubMed/22750291"
},
{
"database": "PubMed",
"id": "18930133",
"url": "https://glygen.org/publication/PubMed/18930133"
}
]
},
{
"annotation": "Pleckstrin-2-promoted PPM1B degradation plays an important role in transforming growth factor-beta-induced breast cancer cell invasion and metastasis.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001028729",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028729"
},
{
"database": "PubMed",
"id": "36928924",
"url": "https://glygen.org/publication/PubMed/36928924"
}
]
},
{
"annotation": "Protein Phosphatase PPM1B Inhibits Gastric Cancer Progression and Serves as a Favorable Prognostic Biomarker.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001028729",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028729"
},
{
"database": "PubMed",
"id": "35319516",
"url": "https://glygen.org/publication/PubMed/35319516"
}
]
},
{
"annotation": "Protein phosphatase PPM1B inhibits DYRK1A kinase through dephosphorylation of pS258 and reduces toxic tau aggregation.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001028729",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028729"
},
{
"database": "PubMed",
"id": "33380426",
"url": "https://glygen.org/publication/PubMed/33380426"
}
]
},
{
"annotation": "The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional transcript variants have been described, but currently do not represent full-length sequences. [provided by RefSeq, Jul 2008].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001028729",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028729"
}
]
},
{
"annotation": "[TRIM59 regulates invasion and migration of nasopharyngeal carcinoma cells by targeted modulation of PPM1B].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001028729",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028729"
},
{
"database": "PubMed",
"id": "34308852",
"url": "https://glygen.org/publication/PubMed/34308852"
}
]
}
],
"disease": [],
"snv": [],
"mutagenesis": [],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "88.37",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000138032",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000138032"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "89.48",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000138032",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000138032"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "88.9",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000138032",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000138032"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "73.14",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000138032",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000138032"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "96.24",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000138032",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000138032"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "93.92",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000138032",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000138032"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "82.61",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000138032",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000138032"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "91.08",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000138032",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000138032"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "88.66",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000138032",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000138032"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "85.54",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000138032",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000138032"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "95.1",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000138032",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000138032"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "91.32",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000138032",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000138032"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "90.91",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000138032",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000138032"
}
]
}
],
"expression_disease": [
{
"significant": "No",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "O75688",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75688"
}
],
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
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}
],
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{
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"resource": "Disease Ontology",
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},
"synonyms": [
{
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"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
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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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
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},
{
"id": "MONDO:0001056",
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"name": "malignant tumour of body of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
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"name": "ca greater curvature of stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
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"name": "Gastric cancer",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
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},
{
"id": "DOID:11054",
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"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
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},
{
"id": "MONDO:0001187",
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"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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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",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
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},
{
"id": "MONDO:0001187",
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"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",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
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},
{
"id": "MONDO:0001187",
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"name": "urinary bladder malignant tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "O75688",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75688"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "O75688",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75688"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O75688",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75688"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "O75688",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75688"
}
],
"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": "O75688",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75688"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "O75688",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75688"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "O75688",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75688"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O75688",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75688"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
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},
"synonyms": [
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
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},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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},
{
"id": "MONDO:0007576",
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"name": "malignant tumour of oesophagus",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of abdominal oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
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"name": "Esophageal cancer",
"description": "Esophageal cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
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"id": "O75688",
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}
],
"disease": [
{
"disease_id": "DOID:9256",
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},
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},
{
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},
{
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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"name": "colon cancer, advanced, somatic",
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},
{
"id": "MONDO:0005575",
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},
{
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},
{
"id": "MONDO:0005575",
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"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
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},
{
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},
{
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{
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},
{
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
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},
{
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},
{
"id": "MONDO:0005575",
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
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{
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},
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"database": "Ensembl Peptide",
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{
"isoform_ac": "O75688-4",
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"header": "sp|O75688-4|PPM1B_HUMAN Isoform 4 of Protein phosphatase 1B OS=Homo sapiens OX=9606 GN=PPM1B PE=1 SV=1 CANONICAL=O75688-1"
},
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"id": "ENST00000409432.7",
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{
"database": "Ensembl Peptide",
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{
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"header": "sp|O75688-5|PPM1B_HUMAN Isoform 5 of Protein phosphatase 1B OS=Homo sapiens OX=9606 GN=PPM1B PE=1 SV=1 CANONICAL=O75688-1"
},
"locus": {}
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"end_pos": 195,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
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"database": "iPTMnet",
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{
"database": "PubMed",
"id": "23756813",
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],
"site_lbl": "Ser195"
},
{
"start_pos": 386,
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"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine",
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{
"database": "PubMed",
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},
{
"database": "iPTMnet",
"id": "O75688",
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],
"site_lbl": "Ser386"
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],
"glycation": [],
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"Q16690-1",
"Q13115-1",
"Q9GZU7-1",
"Q9UNI6-1",
"Q9Y6W6-1",
"Q68J44-1",
"Q16829-1",
"Q8WTR2-1",
"Q9BRF8-1",
"O95147-1",
"Q9UII6-1",
"Q9H0C8-1",
"Q99502-1",
"Q9ULR3-1",
"P60510-1",
"P49593-1",
"O15297-1",
"Q5SGD2-1",
"O15355-1",
"Q8WY54-2",
"Q8N819-1",
"Q5JR12-1",
"O75688-1",
"O14830-1",
"O14829-1",
"P16298-1",
"Q8IXW5-1",
"O60346-1",
"Q6ZVD8-1",
"P67775-1",
"P48454-1",
"P53041-1",
"O00743-1",
"Q96MI6-5",
"Q8WUK0-1",
"P35813-1",
"P62714-1",
"Q96HS1-1",
"Q08209-1",
"P60484-1",
"Q8N3J5-1",
"Q8TE77-1",
"Q76I76-1",
"Q8WVY7-1",
"Q9NP77-1",
"Q8WYL5-1",
"Q96GD0-1",
"A0A1W2PQ27-1",
"A0A1W2PR75-1",
"A0A1W2PQC6-1",
"A0A1W2PQD8-1",
"A0A1W2PQJ5-1",
"A0A1W2PQ64-1",
"Q92562-1",
"P63087-1",
"Q9D7X3-1",
"Q6PFY9-1",
"Q3TP92-1",
"P58465-1",
"P58466-1",
"Q7TSG2-1",
"Q8BFS6-1",
"Q6GQT0-1",
"Q810P3-1",
"Q8R4V2-1",
"Q99N11-1",
"Q9JLY7-1",
"Q9WUA5-1",
"O09112-1",
"Q8BTR5-1",
"Q9DBB1-1",
"Q9D700-1",
"Q8BX07-1",
"Q9QYJ7-1",
"Q8VE01-1",
"Q91Z46-1",
"P28563-1",
"Q8K4T5-1",
"Q6NT99-1",
"Q8BK84-1",
"Q8BFV3-1",
"P97767-1",
"Q9D0T2-1",
"Q9D9D8-1",
"Q9ESS0-1",
"Q8R0F6-1",
"Q149T7-1",
"Q3UYC0-1",
"P62141-1",
"O35385-1",
"Q8BX10-1",
"Q6NVE9-1",
"Q8BU27-3",
"Q80TL0-1",
"Q8BGL1-1",
"Q8BHN0-1",
"Q8CGA0-1",
"Q9QZ67-1",
"O35655-1",
"P97470-1",
"Q8BXA7-1",
"Q8CHE4-1",
"P49443-1",
"Q61074-1",
"Q5SW75-1",
"P62715-1",
"P63328-1",
"Q8K330-1",
"Q9CY97-1",
"P62137-1",
"P36993-1",
"P48453-1",
"P48455-1",
"Q60676-1",
"Q66GT5-1",
"Q76I79-1",
"Q9CQR6-1",
"Q8VC34-1",
"P63330-1",
"O08586-1",
"Q8BXN7-1",
"Q8BGR9-1",
"P60487-1",
"Q91WF7-1",
"P14747-1",
"P20604-1",
"P23594-1",
"P23595-1",
"P25646-1",
"P26570-1",
"P32598-1",
"P33329-1",
"P38757-1",
"P38797-1",
"P23287-1",
"P53043-1",
"P32345-1",
"P32838-1",
"P32945-1",
"P38148-1",
"P39966-1",
"P40084-1",
"P53538-1",
"P34221-1",
"P35182-1",
"P38089-1",
"Q03254-1",
"Q12378-1",
"Q54GL8-1",
"Q54IJ8-1",
"Q54M72-1",
"Q54M73-1",
"Q54QE5-1",
"Q558Z3-1",
"Q54R42-1",
"Q55E39-1",
"Q54T01-1",
"Q54T76-1",
"Q54WS9-1",
"Q556S4-1",
"Q55BI8-1",
"Q55CS8-1",
"Q8ST13-1",
"Q9U9A3-1",
"Q75JA4-1",
"O15757-1",
"O15743-1",
"Q54RD6-1",
"Q54Y32-1",
"Q556Y8-1",
"Q55CS7-1",
"Q7YSW8-1",
"Q9XYL0-1",
"Q9XZE5-1",
"Q9Y0B7-1",
"Q8T9S7-1",
"Q05547-1",
"Q27884-1",
"Q7K4Q5-1",
"Q9VAH4-1",
"A8DYY5-1",
"O76932-1",
"P11612-1",
"P40421-1",
"P48461-1",
"Q6NN85-1",
"Q86BN8-1",
"Q9VJ07-1",
"P12982-1",
"P48462-1",
"M9PFN0-1",
"O46084-1",
"Q9VRG7-1",
"P23696-1",
"Q27889-1",
"Q9VXF1-1",
"X2JEB8-1",
"A8QI94-1",
"P48456-1",
"Q9VWE4-1",
"Q9VVW5-1",
"Q9VWF4-1",
"Q7KVM5-1",
"Q9XZ16-1",
"Q9VQL9-1",
"Q9W0E2-1",
"Q9W3R1-1",
"Q5LJN2-1",
"Q9W2A5-1",
"Q9W147-1",
"Q7KMQ6-1",
"Q961C5-1",
"Q9W173-1",
"M9PI51-1",
"Q9VZS0-1",
"Q7JY68-1"
],
"evidence": [
{
"id": "20629",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/20629"
}
]
},
{
"id": "47004",
"name": "",
"equation": "H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62142-1",
"Q3SWT6-1",
"Q4KLK9-1",
"Q5I0E6-1",
"P20651-1",
"Q5FWT7-1",
"A0A0G2JYA4-1",
"Q3B7T6-1",
"B4F7B7-1",
"Q5FVI9-1",
"P63329-1",
"Q66H71-1",
"Q80Z30-1",
"Q91XQ2-1",
"B2RZ50-1",
"P63088-1",
"Q64346-1",
"P0C595-1",
"Q6AXW7-1",
"Q62767-1",
"Q63340-1",
"O54838-1",
"Q64623-1",
"Q9JIM4-1",
"P63331-1",
"O54857-1",
"Q9Z1Z6-1",
"Q9WVR7-1",
"F1LNI5-1",
"P20650-1",
"P35815-1",
"P62138-1",
"Q562B5-1",
"Q5BJ92-1",
"Q5M821-1",
"Q5XIS1-1",
"Q641Y6-1",
"Q9WTR8-1",
"Q64620-1",
"P53042-1",
"P62716-1",
"P0C089-1",
"A0A8I6AF61-1",
"A0A0G2K9N1-1",
"Q2YDV1-1",
"E2CWF0-1",
"D4A520-1",
"D3ZN69-1",
"A0A0G2K0J7-1",
"D3ZNK9-1",
"D4A3W6-1",
"F1M4Q5-1",
"M0R5X1-1",
"A0A8I6B0P9-1",
"D3ZBG7-1",
"B1WC24-1",
"M0R4W4-1",
"A6HQ12-1",
"A0A8I5ZU99-1",
"Q8NI37-1",
"P36873-1",
"P60510-1",
"Q16667-1",
"Q9Y5B0-1",
"P48454-1",
"Q08209-1",
"P53041-1",
"P62140-1",
"P62714-1",
"Q9UNH5-1",
"A4D256-1",
"O60729-1",
"P51452-1",
"O95476-1",
"O14595-1",
"O15194-1",
"O14829-1",
"Q9BV47-1",
"P62136-1",
"O95147-1",
"Q9BVJ7-1",
"Q9H1R2-1",
"Q9BY84-1",
"Q9NRW4-1",
"Q16828-1",
"Q9H596-1",
"Q13202-1",
"Q4G0W2-1",
"Q99956-1",
"Q8NEJ0-1",
"Q6B8I1-1",
"B3EWF7-1",
"P28562-1",
"Q16690-1",
"Q13115-1",
"Q9GZU7-1",
"Q9UNI6-1",
"Q9Y6W6-1",
"Q05923-1",
"Q68J44-1",
"Q16829-1",
"Q8WTR2-1",
"Q9BRF8-1",
"Q9UII6-1",
"Q9H0C8-1",
"Q99502-1",
"Q9ULR3-1",
"P49593-1",
"O15297-1",
"Q5SGD2-1",
"O15355-1",
"Q8IXW5-1",
"Q8WY54-2",
"Q8N819-1",
"Q5JR12-1",
"O75688-1",
"O14830-1",
"O60346-1",
"Q6ZVD8-1",
"P67775-1",
"P16298-1",
"O00743-1",
"Q96MI6-5",
"Q8WUK0-1",
"P35813-1",
"Q96HS1-1",
"P60484-1",
"Q8TE77-1",
"Q76I76-1",
"Q8WYL5-1",
"Q8WVY7-1",
"Q9NP77-1",
"A0A1W2PQ27-1",
"A0A1W2PR75-1",
"A0A1W2PQC6-1",
"A0A1W2PQD8-1",
"A0A1W2PQJ5-1",
"A0A1W2PQ64-1",
"P63087-1",
"P48453-1",
"Q9D7X3-1",
"O35655-1",
"Q9CQR6-1",
"Q6PFY9-1",
"Q3TP92-1",
"P58465-1",
"P58466-1",
"Q7TSG2-1",
"Q8BFS6-1",
"Q6GQT0-1",
"Q810P3-1",
"Q8R4V2-1",
"Q99N11-1",
"Q9JLY7-1",
"Q9WUA5-1",
"O09112-1",
"Q8BTR5-1",
"Q9DBB1-1",
"Q9D700-1",
"Q8BX07-1",
"Q9QYJ7-1",
"Q8VE01-1",
"Q91Z46-1",
"P28563-1",
"Q8K4T5-1",
"Q6NT99-1",
"Q8BK84-1",
"Q8BFV3-1",
"Q05922-1",
"P97767-1",
"Q9D0T2-1",
"Q9D9D8-1",
"Q9ESS0-1",
"Q8R0F6-1",
"Q149T7-1",
"Q3UYC0-1",
"P62141-1",
"O35385-1",
"Q8BX10-1",
"Q6NVE9-1",
"Q8BU27-3",
"Q80TL0-1",
"Q8BGL1-1",
"Q8BHN0-1",
"Q8CGA0-1",
"Q9QZ67-1",
"Q76I79-1",
"P97470-1",
"Q8BXA7-1",
"Q8CHE4-1",
"P49443-1",
"Q61074-1",
"Q5SW75-1",
"P62715-1",
"P63328-1",
"Q8VC34-1",
"Q8K330-1",
"Q9CY97-1",
"P62137-1",
"P36993-1",
"P48455-1",
"Q60676-1",
"Q66GT5-1",
"P63330-1",
"O08586-1",
"Q7TNL7-1",
"Q8BGR9-1",
"Q1HL35-1",
"P14747-1",
"P20604-1",
"P23594-1",
"P23595-1",
"P25646-1",
"P26570-1",
"P32598-1",
"P33329-1",
"P38757-1",
"P38797-1",
"P23287-1",
"P53043-1",
"P32345-1",
"P32838-1",
"P32945-1",
"P38148-1",
"P39966-1",
"P40084-1",
"P53538-1",
"P34221-1",
"P35182-1",
"P38089-1",
"Q03254-1",
"Q12378-1",
"Q54GL8-1",
"Q54IJ8-1",
"Q54M72-1",
"Q54M73-1",
"Q54QE5-1",
"Q558Z3-1",
"Q54R42-1",
"Q54T01-1",
"Q54T76-1",
"Q54WS9-1",
"Q556S4-1",
"Q55BI8-1",
"Q55CS8-1",
"Q55E39-1",
"Q8ST13-1",
"Q9U9A3-1",
"Q75JA4-1",
"O15743-1",
"O15757-1",
"Q54RD6-1",
"Q54Y32-1",
"Q556Y8-1",
"Q55CS7-1",
"Q7YSW8-1",
"Q9XYL0-1",
"Q9XZE5-1",
"Q9Y0B7-1",
"Q8T9S7-1",
"Q05547-1",
"Q27884-1",
"Q7K4Q5-1",
"Q9VAH4-1",
"A8DYY5-1",
"O76932-1",
"P11612-1",
"P40421-1",
"P48461-1",
"Q6NN85-1",
"Q9VJ07-1",
"P12982-1",
"P48462-1",
"Q86BN8-1",
"O46084-1",
"Q9VRG7-1",
"P23696-1",
"Q27889-1",
"Q9VXF1-1",
"X2JEB8-1",
"A8QI94-1",
"Q9VVW5-1",
"P48456-1",
"Q9VWE4-1",
"Q9VWF4-1",
"Q7KVM5-1",
"Q9XZ16-1",
"Q95TV5-1",
"Q9VQL9-1",
"Q9W0E2-1",
"Q9W3R1-1",
"Q5LJN2-1",
"Q9W2A5-1",
"Q9W147-1",
"Q7KMQ6-1",
"Q961C5-1",
"Q9W173-1",
"M9PI51-1",
"Q9VZS0-1",
"Q7JY68-1"
],
"evidence": [
{
"id": "47004",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/47004"
}
]
},
{
"id": "R-HSA-1169405",
"name": "ISGylation of protein phosphatase 1 beta (PP2CB)",
"equation": "",
"summary": "Protein phosphatase 1 beta (PPM1B/PP2CB) is a target for ISG15. PP2CB dephosphorylates TAK1 and suppresses TAK1/TAB1-mediated IkB alpha degradation and thereby controls the NF-kB signaling pathway, which plays a critical role in innate and adaptive immunity and cancer. ISGylation of PP2CB may block the suppressive function of the phosphatase against TAK1/TAB1 mediated NF-kB activation.",
"cellular_location": "cytosol",
"input_participant_list": [
"R-HSA-1169375"
],
"output_participant_list": [],
"enzyme_list": [
"Q9Y4X5-1",
"O75688-1",
"O14933-1",
"Q9UII4-1",
"Q14258-1"
],
"evidence": [
{
"id": "R-HSA-1169405",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169405"
}
]
},
{
"id": "R-HSA-9700131",
"name": "ALK mutants bind type I TKIs",
"equation": "",
"summary": "The following ALK mutants and fusion proteins are sensitive to these type I tyrosine kinase inhibitors:
crizotinib:
ALK F1174V: Ceccon et al, 2015
ALK L1198F: Chuang et al, 2019; Ceccon et al, 2015
BCL11A(1-219)InsDHPPA-ALK(1058-1620): Tian et al, 2017
BIRC6(1-958)-ALK(1058-1620): Shan et al, 2015
EIF2AK3(30-144)-ALK(1058-1620): Ali et al, 2016
EML4(1-223)-ALK(1059-1620): Ali et al, 2016
EML4(1-223)insKMSTREKNSQV-ALK(1059-1620): Ali et al, 2016
EML4(1-486)-ALK(1058-1620): Ali et al, 2016; Hrustanovic et al, 2015; Katayama et al, 2011
FN1(32-1201)-ALK(1022-1620): Ren et al, 2012
HIP1(1-1019)-ALK(1058-1620): Ou et al, 2014
HIP1(1-963)-ALK(1058-1620): Hong et al, 2014
HIP1(1-719)InsL-ALK(1059-1620): Fang et al, 2014
NPM1(1-117)-ALK(1058-1620): Prokoph et al, 2020
PPM1B (1-282)-ALK(1058-1620): Ali et al, 2016
PRKAR1A(1-183)-ALK(1058-1620): Ali et al, 2016
STRN(1-137)-ALK(1058-1620): Kelly et al, 2014
NVP-TAE684:
ALK F1174L: George et al, 2008; Heuckmann et al, 2011
ALK V1180L: Katayama et al, 2014
ALK L1196M: Heuckmann et al, 2011
ALK L1196Q: Ceccon et al, 2013
ALK G1269S: Heuckmann, 2011
ALK R1275Q: George, 2008
CLTC(2-1634)-ALK(1059-1620): Cerchietti et al, 2011
EML4(1-223)insKMSTREKNSQV -ALK(1059-1620): Heuckmann, 2011
FN1(32-1201)-ALK(1022-1620): Ren et al, 2012
NPM1(1-117)-ALK(1058-1620): Galkin et al, 2007
STRN(1-137)-ALK(1058-1620): Kelly et al, 2014
ceritinib:
ALK I1171T: Friboulet et al, 2014; Katayama et al, 2014
ALK F1174V: Ceccon et al, 2015
ALK V1180L: Katayama et al, 2014
ALK S1206Y: Friboulet et al, 2014;
ALK G1269A: Friboulet et al, 2014;
EML4(1-486)-ALK(1058-1620): Hrustanovic et al, 2015
brigatinib:
ALK F1174V: Ceccon et al, 2015
ALK V1180L: Katayama et al, 2014
ALK L1196Q: Ceccon et al, 2013
NPM1(1-117)-ALK(1058-1620): Ceccon et al, 2015
alectinib:
ALK F1174I: Ou et al, 2016
ALK F1174L: Ou et al, 2016
ALK F1174V: Ou et al, 2016; Ceccon et al, 2015 (moderate)
EML4(1-223)-ALK(1059-1620): Ou et al, 2014
EML4(1-223)insKMSTREKNSQV-ALK(1059-1620): Ou et al, 2014
EML4(1-486)-ALK(1058-1620): Davare et al, 2015
HIP1(1-1019)-ALK(1058-1620):Ou et al, 2014
ASP3026:
ALK V1180L: Katayama et al, 2014
Entrectinib:
ALK C1156Y: Ardini et al, 2016
ALK L1196M: Ardini et al, 2016
EML4(1-223)-ALK(1059-1620): Ardini et al, 2016
EML4(1-223)insKMSTREKNSQV-ALK(1059-1620): Ardini et al, 2016
EML4(1-486)-ALK(1058-1620): Ardini et al, 2016
NPM1(1-117)-ALK(1058-1620): Ardini et al, 2016
",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UM73-1",
"O75688-1",
"Q9NR09-1",
"Q9NZJ5-1"
],
"evidence": [
{
"id": "R-HSA-9700131",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9700131"
}
]
},
{
"id": "R-HSA-9700179",
"name": "Ligand-independent dimerization of ALK fusions",
"equation": "",
"summary": "The ALK locus is subject to chromosomal translocations and inversions that give rise to oncogenic fusion proteins in a number of different cancers. To date, ALK has been identified as a fusion partner with more than 25 proteins in cancers ranging from anaplastic large cell lymphoma (ALCL), non-small cell lung cancer (NSCLC), diffuse B-cell lymphoma, neuroblastoma, rhabdomyosarcoma and inflammatory myofibroblastic tumors, among others (reviewed in Roskoski, 2013; Della Corte et al, 2018). These fusion proteins form constitutive, ligand-independent dimers by virtue of an N-terminal dimerization domain contributed by the fusion partner, and retain the intracellular region of the ALK receptor tyrosine kinase. Expression (and often overexpression) of the fusion proteins is regulated by the promoter of the fusion partner. Signaling downstream of the fusion proteins occurs through numerous pathways including the MAP kinase, PI3K and STAT cascades, among others, but the extent to which each pathway is activated downstream of the different fusions varies (Armstrong et al, 2004; reviewed in Hallberg and Palmer, 2013; Hallberg and Palmer, 2016; Della Corte et al, 2018, Roskoski, 2013).
The best characterized ALK fusion protein is NPM-ALK, which occurs in 75-80% of ALCLs, and fuses the intracellular portion of ALK with the N-terminal region of nucleophosmin, a protein involved in DNA repair, transcription and genome stability. NPM-ALK constitutively dimerizes based on the N-terminal NPM region. Deletion of the N-terminal domain abrogates oligomerization and abolishes the transformation activity of the protein (Morris et al, 1995; Fujimoto et al, 1996).
In addition to NPM, fusions with ALK have also been identified with EML4 (Soda et al, 2007; Choi et al, 2008; Takezawa et al, 2011), CLTC (De Paepe et al, 2003; Cherchetti et al, 2011; Chiakatsu et al, 2003), TPM3 (Lamant et al, 1999; Lawrence et al, 2000), TPM4 (Lawrence et al, 2000), RANBP2 (Marino-Enriquez et al, 2011a; Lee et al, 2017; Chen et al, 2008), STRN (Majewska et al, 2013; Perot et al, 2014; Kelly et al, 2014), ATIC (Colleoni et al, 2000; Trinei et al, 2000; Ma et al, 2000), KIF5B (Wong et al, 2011), TFG (Hernandez et al, 1999; Hernandez et al, 2002), HIP1 (Ou et al, 2014; Hong et al, 2014; Fang et al, 2014), CARS1 (Cools et al, 2002; Debelenko et al, 2003), PPF1BP1 (Takeuchi et al, 2011; Yoshida et al, 2013), MSN (Tort et al, 2001), VCL (Marino-Enriquez et al, 2011b; Debelenko et al, 2011), KLC1 (Togayashi et al, 2012), SEC31A (Panagopoulos et al, 2006), SQSTM1 (Iyevleva et al, 2015; Takeuchi et al, 2011), TPR (Choi et al, 2014), WDCP (Lipson et al, 2012), RRBP1 (Lee et al, 2017), DCTN1 (Subbiah et al, 2015; Lee et al, 2017; Iyevleva et al, 2015; Wang et al, 2012; Wiesner et al, 2014), EEF1A (van der Krogt et al, 2017), BIRC6 (Shan et al, 2015), EIF2AK3 (Ali et al, 2016), PPM1B (Ali et al, 2016), PRKAR1A (Ali et al, 2016), GCC2 (Noh et al, 2017), BCL11A (Tian et al, 2007) and LMO7 (Noh et al, 2017).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O75688-1",
"P49792-1",
"Q9NR09-1",
"Q9NZJ5-1",
"P49589-1"
],
"evidence": [
{
"id": "R-HSA-9700179",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9700179"
}
]
},
{
"id": "R-HSA-9700181",
"name": "Autophosphorylation of ALK fusions",
"equation": "",
"summary": "After partner protein-mediated dimerization, ALK fusions are trans-autophosphorylated by the ALK kinase domain, leading to constitutive activation and downstream signaling (reviewed in Roskoski, 2013; Hallberg and Palmer, 2016; Della Corte et al, 2018).",
"cellular_location": "cytosol",
"input_participant_list": [],
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"P49589-1"
],
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}
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}
],
"reaction_participants": [
{
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},
{
"id": "HMDBP08793",
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}
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}
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{
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}
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},
{
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]
}
]
},
{
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}
]
},
{
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}
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},
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}
]
},
{
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}
]
}
]
},
{
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}
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},
{
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}
]
},
{
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}
]
},
{
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}
]
}
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},
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}
]
},
{
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}
]
}
]
},
{
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}
]
},
{
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}
]
}
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},
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}
]
},
{
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}
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},
{
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}
]
},
{
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}
]
}
]
},
{
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"ec_number": "3.1.3.16",
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}
]
},
{
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]
},
{
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]
},
{
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}
]
}
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},
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}
]
},
{
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}
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},
{
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}
]
},
{
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{
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}
]
}
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},
{
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}
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{
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}
]
},
{
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}
]
},
{
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}
]
}
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},
{
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},
{
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}
]
},
{
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]
},
{
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{
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]
}
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},
{
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}
]
},
{
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}
]
},
{
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{
"id": "Q9ESS0",
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}
]
},
{
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{
"id": "Q9ESS0",
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}
]
}
]
},
{
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{
"ec_number": "3.1.3.16",
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{
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}
]
},
{
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{
"id": "Q9GZU7",
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}
]
}
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},
{
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{
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}
]
},
{
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{
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}
]
}
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},
{
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{
"ec_number": "3.1.3.16",
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}
]
},
{
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{
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]
},
{
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{
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}
]
},
{
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{
"id": "Q9H1R2",
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}
]
}
]
},
{
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{
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]
},
{
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]
},
{
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]
},
{
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]
}
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},
{
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{
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]
},
{
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]
},
{
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"id": "Q9JIM4",
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]
},
{
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{
"id": "Q9JIM4",
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]
}
]
},
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]
},
{
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"id": "Q9JLY7",
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]
},
{
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{
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]
},
{
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{
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]
}
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},
{
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{
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]
},
{
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{
"id": "Q9NP77",
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]
}
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},
{
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{
"id": "Q9NR09",
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]
},
{
"ec_number": "2.3.2.27",
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{
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]
}
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},
{
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{
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]
},
{
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{
"id": "Q9NRW4",
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]
},
{
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{
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]
},
{
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{
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]
}
]
},
{
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{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
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{
"id": "Q9NZJ5",
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"url": "https://www.uniprot.org/uniprot/Q9NZJ5"
}
]
},
{
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{
"id": "Q9NZJ5",
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"url": "https://www.uniprot.org/uniprot/Q9NZJ5"
}
]
}
]
},
{
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{
"ec_number": "3.1.3.16",
"activity": "H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate.",
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{
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]
},
{
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