{
"uniprot_canonical_ac": "O43708-1",
"uniprot_ac": "O43708",
"uniprot_id": "MAAI_HUMAN",
"mass": {
"chemical_mass": 24212.0,
"monoisotopic_mass": 24212.0
},
"refseq": {
"ac": "NP_001299589",
"name": "maleylacetoacetate isomerase isoform 3",
"summary": "This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299589"
},
"gene_names": [
{
"name": "GSTZ1",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O43708",
"id": "O43708"
},
{
"name": "GSTZ1-1; MAAI; MAAID; MAI",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299589",
"id": "NP_001299589"
},
{
"name": "GSTZ1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299589",
"id": "NP_001299589"
},
{
"name": "MAAI",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O43708",
"id": "O43708"
},
{
"name": "hCG_22265",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O43708",
"id": "O43708"
}
],
"protein_names": [
{
"name": "Maleylacetoacetate isomerase",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O43708"
},
{
"name": "2.5.1.18",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O43708"
},
{
"name": "5.2.1.2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O43708"
},
{
"name": "GSTZ1-1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O43708"
},
{
"name": "Glutathione S-transferase zeta 1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O43708"
},
{
"name": "MAAI",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O43708"
},
{
"name": "maleylacetoacetate isomerase isoform 3",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299589",
"id": "NP_001299589"
},
{
"name": "maleylacetone isomerase; glutathione S-alkyltransferase; glutathione S-aryltransferase; S-(hydroxyalkyl)glutathione lyase; glutathione S-aralkyltransferase; maleylacetoacetate isomerase; glutathione transferase zeta 1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299589",
"id": "NP_001299589"
}
],
"function": [
{
"annotation": "Age-Related Changes in miRNA Expression Influence GSTZ1 and Other Drug Metabolizing Enzymes.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001299589",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299589"
},
{
"database": "PubMed",
"id": "32357971",
"url": "https://glygen.org/publication/PubMed/32357971"
}
]
},
{
"annotation": "Bifunctional enzyme showing minimal glutathione-conjugating activity with ethacrynic acid and 7-chloro-4-nitrobenz-2-oxa-1,3-diazole and maleylacetoacetate isomerase activity. Has also low glutathione peroxidase activity with T-butyl and cumene hydroperoxides. Is able to catalyze the glutathione dependent oxygenation of dichloroacetic acid to glyoxylic acid.",
"evidence": [
{
"database": "UniProtKB",
"id": "O43708",
"url": "https://www.uniprot.org/uniprot/O43708#function"
},
{
"database": "PubMed",
"id": "10739172",
"url": "https://glygen.org/publication/PubMed/10739172"
}
]
},
{
"annotation": "Clinical physiology and pharmacology of GSTZ1/MAAI. Review article",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001299589",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299589"
},
{
"database": "PubMed",
"id": "37742772",
"url": "https://glygen.org/publication/PubMed/37742772"
}
]
},
{
"annotation": "GSTZ1 sensitizes hepatocellular carcinoma cells to sorafenib-induced ferroptosis via inhibition of NRF2/GPX4 axis. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001299589",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299589"
},
{
"database": "PubMed",
"id": "33931597",
"url": "https://glygen.org/publication/PubMed/33931597"
}
]
},
{
"annotation": "Glutathione S-transferase zeta 1 alters the HMGB1/GPX4 axis to drive ferroptosis in bladder cancer cells.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001299589",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299589"
},
{
"database": "PubMed",
"id": "36905252",
"url": "https://glygen.org/publication/PubMed/36905252"
}
]
},
{
"annotation": "This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001299589",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299589"
}
]
}
],
"disease": [
{
"disease_id": "MONDO:0060527",
"recommended_name": {
"id": "MONDO:0060527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0060527",
"name": "maleylacetoacetate isomerase deficiency",
"description": ""
},
"synonyms": [
{
"id": "MONDO:0060527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0060527",
"name": "maleylacetoacetate isomerase deficiency",
"description": ""
},
{
"id": "MONDO:0060527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0060527",
"name": "MAAI deficiency",
"description": ""
},
{
"id": "MONDO:0060527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0060527",
"name": "MAAID",
"description": ""
},
{
"id": "MONDO:0060527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0060527",
"name": "benign hypersuccinylacetonemia",
"description": ""
},
{
"id": "MONDO:0060527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0060527",
"name": "hypersuccinylacetonemia, mild",
"description": ""
},
{
"id": "MIM:617596",
"resource": "MIM",
"url": "https://www.omim.org/entry/617596",
"name": "Maleylacetoacetate isomerase deficiency",
"description": "Maleylacetoacetate isomerase deficiency"
}
],
"evidence": [
{
"id": "617596",
"database": "MIM",
"url": "https://www.omim.org/entry/617596"
}
]
}
],
"snv": [],
"mutagenesis": [],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "79.81",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100577",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100577"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "82.77",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100577",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100577"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "81.42",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100577",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100577"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "76.78",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100577",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100577"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "84.25",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100577",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100577"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "90.53",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100577",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100577"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "85.41",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100577",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100577"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "80.55",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100577",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100577"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "86.07",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100577",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100577"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "73.35",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100577",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100577"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "94.18",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100577",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100577"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "90.32",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100577",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100577"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "85.95",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100577",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100577"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "up",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "O43708",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43708"
}
],
"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": "Yes",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O43708",
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}
],
"disease": [
{
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"resource": "Disease Ontology",
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},
"synonyms": [
{
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"description": ""
},
{
"id": "DOID:10534",
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"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "O43708",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43708"
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],
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{
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"recommended_name": {
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},
"synonyms": [
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"url": "http://disease-ontology.org/term/DOID:11054",
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},
{
"id": "DOID:11054",
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"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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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",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "O43708",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43708"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "O43708",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43708"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O43708",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43708"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "O43708",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43708"
}
],
"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": "No",
"trend": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "O43708",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43708"
}
],
"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": "O43708",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43708"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "O43708",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43708"
}
],
"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": "O43708",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43708"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"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",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"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",
"resource": "MONDO",
"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",
"resource": "MIM",
"url": "https://www.omim.org/entry/133239",
"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": [
{
"database": "BioXpress",
"id": "O43708",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43708"
}
],
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
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},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
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},
{
"id": "MONDO:0005575",
"resource": "MONDO",
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"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
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"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
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"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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"name": "colorectum cancer",
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},
{
"id": "MONDO:0005575",
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"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
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"name": "malignant colorectal tumor",
"description": ""
},
{
"id": "MONDO:0005575",
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"name": "malignant colorectal tumour",
"description": ""
},
{
"id": "MONDO:0005575",
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"name": "malignant colorectum neoplasm",
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},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel neoplasm",
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},
{
"id": "MONDO:0005575",
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"name": "malignant large bowel tumor",
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},
{
"id": "MONDO:0005575",
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}
],
"go_annotation": {
"categories": [
{
"name": "Cellular Component",
"total": 3,
"go_terms": [
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "O43708",
"url": "https://www.uniprot.org/uniprot/O43708"
}
],
"pmid": ""
},
{
"name": "mitochondrion",
"id": "GO:0005739",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739",
"evidence": [
{
"database": "UniProtKB",
"id": "O43708",
"url": "https://www.uniprot.org/uniprot/O43708"
}
],
"pmid": ""
},
{
"name": "mitochondrial matrix",
"id": "GO:0005759",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759",
"evidence": [
{
"database": "UniProtKB",
"id": "O43708",
"url": "https://www.uniprot.org/uniprot/O43708"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 3,
"go_terms": [
{
"name": "L-phenylalanine catabolic process",
"id": "GO:0006559",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006559",
"evidence": [
{
"database": "UniProtKB",
"id": "O43708",
"url": "https://www.uniprot.org/uniprot/O43708"
}
],
"pmid": ""
},
{
"name": "tyrosine catabolic process",
"id": "GO:0006572",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006572",
"evidence": [
{
"database": "UniProtKB",
"id": "O43708",
"url": "https://www.uniprot.org/uniprot/O43708"
}
],
"pmid": ""
},
{
"name": "glutathione metabolic process",
"id": "GO:0006749",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749",
"evidence": [
{
"database": "UniProtKB",
"id": "O43708",
"url": "https://www.uniprot.org/uniprot/O43708"
}
],
"pmid": ""
}
]
},
{
"name": "Molecular Function",
"total": 6,
"go_terms": [
{
"name": "maleylacetoacetate isomerase activity",
"id": "GO:0016034",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016034",
"evidence": [
{
"database": "UniProtKB",
"id": "O43708",
"url": "https://www.uniprot.org/uniprot/O43708"
}
],
"pmid": ""
},
{
"name": "transferase activity",
"id": "GO:0016740",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740",
"evidence": [
{
"database": "UniProtKB",
"id": "O43708",
"url": "https://www.uniprot.org/uniprot/O43708"
}
],
"pmid": ""
},
{
"name": "glutathione transferase activity",
"id": "GO:0004364",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004364",
"evidence": [
{
"database": "UniProtKB",
"id": "O43708",
"url": "https://www.uniprot.org/uniprot/O43708"
}
],
"pmid": ""
},
{
"name": "identical protein binding",
"id": "GO:0042802",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802",
"evidence": [
{
"database": "UniProtKB",
"id": "O43708",
"url": "https://www.uniprot.org/uniprot/O43708"
}
],
"pmid": ""
},
{
"name": "protein homodimerization activity",
"id": "GO:0042803",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803",
"evidence": [
{
"database": "UniProtKB",
"id": "O43708",
"url": "https://www.uniprot.org/uniprot/O43708"
}
],
"pmid": ""
},
{
"name": "glutathione peroxidase activity",
"id": "GO:0004602",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004602",
"evidence": [
{
"database": "UniProtKB",
"id": "O43708",
"url": "https://www.uniprot.org/uniprot/O43708"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 115,
"end_pos": 117,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "14817",
"name": "",
"equation": "4-maleylacetoacetate = 4-fumarylacetoacetate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P57113-1",
"O43708-1",
"Q9WVL0-1",
"Q54YN2-1",
"Q9VHD3-1",
"Q9VHD2-1"
],
"evidence": [
{
"id": "14817",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/14817"
}
]
},
{
"id": "16437",
"name": "",
"equation": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+)",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04904-1",
"P46418-1",
"P24473-1",
"P30713-1",
"Q6AXY0-1",
"Q9QX69-1",
"O35543-1",
"Q9Z339-1",
"P08009-1",
"P14942-1",
"Q9Z1B2-1",
"Q6AXV9-1",
"Q5BK56-1",
"P00502-1",
"P04903-1",
"P04905-1",
"P04906-1",
"P57113-1",
"Q01579-1",
"P08010-1",
"P08011-1",
"Q4V8E6-1",
"A0A0G2K4Q5-1",
"F1LXL7-1",
"Q9Y2Q3-1",
"Q9H4Y5-1",
"P46439-1",
"Q03013-1",
"P78417-1",
"P08263-1",
"P0CG30-1",
"P09488-1",
"Q7RTV2-1",
"Q16772-1",
"P28161-1",
"P0CG29-1",
"O60760-1",
"P09211-1",
"P30711-1",
"P09210-1",
"O15217-1",
"O43813-1",
"P21266-1",
"P10620-1",
"O43708-1",
"Q99735-1",
"A0A1W2PR19-1",
"F6RWR5-1",
"Q9JHF7-1",
"E9Q6L7-1",
"Q9WVL0-1",
"O35660-1",
"P46425-1",
"P19639-1",
"P48774-1",
"Q9DCM2-1",
"Q99L20-1",
"O09131-1",
"P24472-1",
"P19157-1",
"Q61133-1",
"Q8K2Q2-1",
"Q80W21-1",
"O89112-1",
"P10648-1",
"P13745-1",
"P15626-1",
"P30115-1",
"P10649-1",
"Q64471-1",
"Q9D4P7-1",
"Q91VS7-1",
"Q6P8Q0-1",
"A2RST1-1",
"Q8R5I6-1",
"P17695-1",
"P25373-1",
"P36156-1",
"P40582-1",
"P48239-1",
"Q04806-1",
"Q12390-1",
"Q54GA9-1",
"Q54QV7-1",
"Q54VI4-1",
"Q55FF3-1",
"Q86AU1-1",
"Q556G3-1",
"Q9VG94-1",
"Q9VG96-1",
"Q7JYX0-1",
"P41043-1",
"P20432-1",
"Q9VG95-1",
"Q9VG98-1",
"Q9VG93-1",
"Q9VHD3-1",
"Q9VHD2-1"
],
"evidence": [
{
"id": "16437",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/16437"
}
]
},
{
"id": "R-HSA-176054",
"name": "GST dimers conjugate GSH with cytosolic substrates",
"equation": "",
"summary": "The glutathione S-transferases (GSTs) catalyze the nucleophilic attack by reduced glutathione (GSH) on nonpolar compounds that contain an electrophilic carbon, nitrogen, or sulphur atom. Their substrates include halogenonitrobenzenes, arene oxides, quinones, and alpha, beta-unsaturated carbonyls. Three major families of proteins are widely distributed in nature. Two of these, the cytosolic and mitochondrial GST, comprise soluble enzymes that are only distantly related whilst the third family comprises microsomal GST, referred to as membrane-associated proteins in eicosanoid and glutathione (MAPEG) metabolism.
At least 16 cytosolic GST subunits exist in human which are all in a dimeric form. Based on amino acid sequence similarities, seven classes of cytosolic GST are recognized in mammalian species; Alpha, Mu, Pi, Sigma, Theta, Omega, and Zeta (2\u20135). As well as being homodimers, the Alpha and Mu classes are also able to form heterodimers so a large number of isozymes are possible from all cytosolic GST subunits (Sinning et al. 1993, LeTrong et al. 2002, Ahmad et al. 1993, Pastore et al. 1998, Tars et al. 2010, Bruns et al. 1999, Balogh et al. 2010, Morel et al. 2002, Li et al. 2005, Patskovsky et al. 2006, Raghunathan et al. 1994, Patskovsky et al. 1999, Comstock et al. 1994, Board et al. 2000, Zhou et al. 2011, Zhou et al. 2012, Sun et al. 2011, Tars et al. 2006, Rossjohn et al. 1998, Polekhina et al. 2001, Inoue et al. 2003). Typical electrophilic substrates are chosen as examples for which the majority of the cytosolic GST isozymes act on.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09210-1",
"Q16772-1",
"P0CG29-1",
"P78417-1",
"Q7RTV2-1",
"O60760-1",
"P46439-1",
"Q9H4Y5-1",
"P30711-1",
"P09211-1",
"O15217-1",
"P08263-1",
"P0CG30-1",
"P21266-1",
"O43708-1",
"P09488-1",
"P28161-1",
"Q03013-1"
],
"evidence": [
{
"id": "R-HSA-176054",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176054"
}
]
},
{
"id": "R-HSA-71173",
"name": "maleylacetoacetate => fumarylacetoacetate",
"equation": "",
"summary": "Cytosolic maleylacetoacetic acid isomerase (GSTZ1) catalyzes the conversion of 4-maleylacetoacetate to 4-fumarylacetoacetate. The enzyme is a homodimer (Polekhina et al. 2001).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O43708-1"
],
"evidence": [
{
"id": "R-HSA-71173",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71173"
}
]
},
{
"id": "R-HSA-9011595",
"name": "GSTZ1 dimer dehalogenates DCA to glyoxylate",
"equation": "",
"summary": "In the liver, dimeric glutathione S-transferase zeta 1 (GSTZ1 dimer, aka maleylacetoacetate isomerase, MAAI) mediates the dechlorination of the drug dichloroacetate (DCA) to glyoxylate (Ammini & Stacpoole 2003, Stacpoole et al. 1998, 2008). GSTZ1 is primarily found both in the cytosol and mitochondria (Li et al. 2011). Glyoxylate, the primary metabolite of DCA metabolism, is ultimately converted to oxalate and glycine. The reaction requires (but does not consume) glutathione (GSH). GSTZ1 also catalyses the penultimate step in tyrosine catabolism, thus avoiding the accumulation of toxic tyrosine intermediates. DCA inhibits its own metabolism apparently by a post-translationally mediated inhibition of hepatic GSTZ1 (Stacpoole et al. 1998). GSTZ1 inhibition can cause the build-up of tyrosine intermediates which are able to form protein adducts. Chronic administration of DCA in adult rodents, dogs and some humans causes reversible peripheral neuropathy and hepatotoxicity, possibly because of these reactive tyrosine intermediates (Stacpoole et al. 1998, James et al. 2017). The rate of GSTZ1 inactivation by DCA is influenced by age, GSTZ1 haplotype and cellular chloride concentration (Shroads et al. 2008, 2012, 2015, Jahn et al. 2016, James et al. 2017).",
"cellular_location": "mitochondrial matrix",
"input_participant_list": [
"R-ALL-9010792"
],
"output_participant_list": [],
"enzyme_list": [
"O43708-1"
],
"evidence": [
{
"id": "R-HSA-9011595",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9011595"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-9010792",
"participant_name": "DCA [mitochondrial matrix]",
"crossref": [
{
"id": "28240",
"database": "ChEBI",
"url": ""
},
{
"id": "4518",
"database": "Guide to Pharmacology",
"url": ""
},
{
"id": "PDBC02868",
"database": "PharmacoDB",
"url": ""
},
{
"id": "4518",
"database": "Guide to Pharmacology",
"url": ""
},
{
"id": "28240",
"database": "ChEBI",
"url": ""
},
{
"id": "PDBC02868",
"database": "PharmacoDB",
"url": ""
},
{
"id": "28240",
"database": "ChEBI",
"url": ""
},
{
"id": "4518",
"database": "Guide to Pharmacology",
"url": ""
},
{
"id": "PDBC02868",
"database": "PharmacoDB",
"url": ""
},
{
"id": "28240",
"database": "ChEBI",
"url": ""
},
{
"id": "PDBC02868",
"database": "PharmacoDB",
"url": ""
},
{
"id": "4518",
"database": "Guide to Pharmacology",
"url": ""
},
{
"id": "4518",
"database": "Guide to Pharmacology",
"url": ""
},
{
"id": "28240",
"database": "ChEBI",
"url": ""
},
{
"id": "PDBC02868",
"database": "PharmacoDB",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "A0A0G2K4Q5",
"gene_name": "Gstp3",
"activity": [
{
"ec_number": "2.5.1.18",
"activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).",
"evidence": [
{
"id": "A0A0G2K4Q5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0G2K4Q5"
}
]
},
{
"ec_number": "2.5.1.18",
"activity": "",
"evidence": [
{
"id": "A0A0G2K4Q5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0G2K4Q5"
}
]
}
]
},
{
"uniprot_ac": "A0A1W2PR19",
"gene_name": "GSTT4",
"activity": [
{
"ec_number": "2.5.1.18",
"activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).",
"evidence": [
{
"id": "A0A1W2PR19",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A1W2PR19"
}
]
},
{
"ec_number": "2.5.1.18",
"activity": "",
"evidence": [
{
"id": "A0A1W2PR19",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A1W2PR19"
}
]
}
]
},
{
"uniprot_ac": "A2RST1",
"gene_name": "Mgst2",
"activity": [
{
"ec_number": "1.11.1.-",
"activity": "",
"evidence": [
{
"id": "A2RST1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A2RST1"
}
]
},
{
"ec_number": "4.4.1.20",
"activity": "leukotriene C4 = glutathione + leukotriene A4.",
"evidence": [
{
"id": "A2RST1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A2RST1"
}
]
},
{
"ec_number": "2.5.1.18",
"activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).",
"evidence": [
{
"id": "A2RST1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A2RST1"
}
]
},
{
"ec_number": "2.5.1.18",
"activity": "",
"evidence": [
{
"id": "A2RST1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A2RST1"
}
]
}
]
},
{
"uniprot_ac": "E9Q6L7",
"gene_name": "Gsta5",
"activity": [
{
"ec_number": "2.5.1.18",
"activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).",
"evidence": [
{
"id": "E9Q6L7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/E9Q6L7"
}
]
},
{
"ec_number": "2.5.1.18",
"activity": "",
"evidence": [
{
"id": "E9Q6L7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/E9Q6L7"
}
]
}
]
},
{
"uniprot_ac": "F1LXL7",
"gene_name": "AC097845.1",
"activity": [
{
"ec_number": "2.5.1.18",
"activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).",
"evidence": [
{
"id": "F1LXL7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/F1LXL7"
}
]
},
{
"ec_number": "2.5.1.18",
"activity": "",
"evidence": [
{
"id": "F1LXL7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/F1LXL7"
}
]
}
]
},
{
"uniprot_ac": "F6RWR5",
"gene_name": "Gstp3",
"activity": [
{
"ec_number": "2.5.1.18",
"activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).",
"evidence": [
{
"id": "F6RWR5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/F6RWR5"
}
]
},
{
"ec_number": "2.5.1.18",
"activity": "",
"evidence": [
{
"id": "F6RWR5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/F6RWR5"
}
]
}
]
},
{
"uniprot_ac": "O09131",
"gene_name": "Gsto1",
"activity": [
{
"ec_number": "1.20.4.2",
"activity": "2 glutathione + H(+) + methylarsonate = glutathione disulfide + H2O + methylarsonous acid.",
"evidence": [
{
"id": "O09131",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O09131"
}
]
},
{
"ec_number": "1.8.5.1",
"activity": "2 glutathione + L-dehydroascorbate = glutathione disulfide + L-ascorbate.",
"evidence": [
{
"id": "O09131",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O09131"
}
]
},
{
"ec_number": "2.5.1.18",
"activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).",
"evidence": [
{
"id": "O09131",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O09131"
}
]
},
{
"ec_number": "2.5.1.18",
"activity": "",
"evidence": [
{
"id": "O09131",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O09131"
}
]
},
{
"ec_number": "1.20.4.2",
"activity": "",
"evidence": [
{
"id": "O09131",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O09131"
}
]
},
{
"ec_number": "1.8.5.1",
"activity": "",
"evidence": [
{
"id": "O09131",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O09131"
}
]
}
]
},
{
"uniprot_ac": "O15217",
"gene_name": "GSTA4",
"activity": [
{
"ec_number": "2.5.1.18",
"activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).",
"evidence": [
{
"id": "O15217",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15217"
}
]
},
{
"ec_number": "2.5.1.18",
"activity": "",
"evidence": [
{
"id": "O15217",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15217"
}
]
}
]
},
{
"uniprot_ac": "O35543",
"gene_name": "Hpgds",
"activity": [
{
"ec_number": "5.3.99.2",
"activity": "prostaglandin H2 = prostaglandin D2.",
"evidence": [
{
"id": "O35543",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O35543"
}
]
},
{
"ec_number": "2.5.1.18",
"activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).",
"evidence": [
{
"id": "O35543",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O35543"
}
]
},
{
"ec_number": "5.3.99.2",
"activity": "",
"evidence": [
{
"id": "O35543",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O35543"
}
]
}
]
},
{
"uniprot_ac": "O35660",
"gene_name": "Gstm6",
"activity": [
{
"ec_number": "2.5.1.18",
"activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).",
"evidence": [
{
"id": "O35660",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O35660"
}
]
},
{
"ec_number": "2.5.1.18",
"activity": "",
"evidence": [
{
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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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}
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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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},
{
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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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