{
"uniprot_canonical_ac": "O15498-1",
"uniprot_ac": "O15498",
"uniprot_id": "YKT6_HUMAN",
"mass": {
"chemical_mass": 22418.0,
"monoisotopic_mass": 22418.0
},
"refseq": {
"ac": "NP_006546",
"name": "synaptobrevin homolog YKT6 isoform 1",
"summary": "This gene product is one of the SNARE recognition molecules implicated in vesicular transport between secretory compartments. It is a membrane associated, isoprenylated protein that functions at the endoplasmic reticulum-Golgi transport step. This protein is highly conserved from yeast to human and can functionally complement the loss of the yeast homolog in the yeast secretory pathway. [provided by RefSeq, Jul 2008].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006546"
},
"gene_names": [
{
"name": "YKT6",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O15498",
"id": "O15498"
},
{
"name": "YKT6",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006546",
"id": "NP_006546"
}
],
"protein_names": [
{
"name": "Synaptobrevin homolog YKT6",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O15498"
},
{
"name": "2.3.1.-",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O15498"
},
{
"name": "R-SNARE; YKT6, S. cerevisiae, homolog of; SNARE protein Ykt6; synaptobrevin homolog YKT6; YKT6 v-SNARE protein",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006546",
"id": "NP_006546"
},
{
"name": "synaptobrevin homolog YKT6 isoform 1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006546",
"id": "NP_006546"
}
],
"function": [
{
"annotation": "A SNARE geranylgeranyltransferase essential for the organization of the Golgi apparatus.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_006546",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006546"
},
{
"database": "PubMed",
"id": "32128853",
"url": "https://glygen.org/publication/PubMed/32128853"
}
]
},
{
"annotation": "A pan-cancer analysis of the oncogenic role of YKT6 in human tumors.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_006546",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006546"
},
{
"database": "PubMed",
"id": "37058019",
"url": "https://glygen.org/publication/PubMed/37058019"
}
]
},
{
"annotation": "Abnormalities in the SNARE complex could represent a molecular substrate for abnormalities of neural connectivity in severe mental disorders",
"evidence": [
{
"database": "RefSeq",
"id": "NP_006546",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006546"
},
{
"database": "PubMed",
"id": "11884350",
"url": "https://glygen.org/publication/PubMed/11884350"
}
]
},
{
"annotation": "Data suggest that GS15 exists in a distinct SNARE complex that contains syntaxin5, GS28, and Ykt6, and may be involved in both ER-to-Golgi and intra-Golgi transport.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_006546",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006546"
},
{
"database": "PubMed",
"id": "12388752",
"url": "https://glygen.org/publication/PubMed/12388752"
}
]
},
{
"annotation": "High expression of YKT6 associated with progression and poor prognosis of hepatocellular carcinoma.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_006546",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006546"
},
{
"database": "PubMed",
"id": "34396876",
"url": "https://glygen.org/publication/PubMed/34396876"
}
]
},
{
"annotation": "Proinflammatory macrophage-derived microvesicles exhibit tumor tropism dependent on CCL2/CCR2 signaling axis and promote drug delivery via SNARE-mediated membrane fusion. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_006546",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006546"
},
{
"database": "PubMed",
"id": "32550891",
"url": "https://glygen.org/publication/PubMed/32550891"
}
]
},
{
"annotation": "This gene product is one of the SNARE recognition molecules implicated in vesicular transport between secretory compartments. It is a membrane associated, isoprenylated protein that functions at the endoplasmic reticulum-Golgi transport step. This protein is highly conserved from yeast to human and can functionally complement the loss of the yeast homolog in the yeast secretory pathway. [provided by RefSeq, Jul 2008].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_006546",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006546"
}
]
},
{
"annotation": "Vesicular soluble NSF attachment protein receptor (v-SNARE) mediating vesicle docking and fusion to a specific acceptor cellular compartment. Functions in endoplasmic reticulum to Golgi transport; as part of a SNARE complex composed of GOSR1, GOSR2 and STX5. Functions in early/recycling endosome to TGN transport; as part of a SNARE complex composed of BET1L, GOSR1 and STX5. Has a S-palmitoyl transferase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15498",
"url": "https://www.uniprot.org/uniprot/O15498#function"
},
{
"database": "PubMed",
"id": "9211930",
"url": "https://glygen.org/publication/PubMed/9211930"
},
{
"database": "PubMed",
"id": "15215310",
"url": "https://glygen.org/publication/PubMed/15215310"
},
{
"database": "UniProtKB",
"id": "A0A7I2V4L6",
"url": "https://www.uniprot.org/uniprot/A0A7I2V4L6#function"
},
{
"database": "UniProtKB",
"id": "ARBA00025256",
"url": "https://www.uniprot.org/uniprot/ARBA00025256#function"
}
]
},
{
"annotation": "YKT6, as a potential predictor of prognosis and immunotherapy response for oral squamous cell carcinoma, is related to cell invasion, metastasis, and CD8+ T cell infiltration. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_006546",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_006546"
},
{
"database": "PubMed",
"id": "34221701",
"url": "https://glygen.org/publication/PubMed/34221701"
}
]
}
],
"disease": [],
"snv": [],
"mutagenesis": [
{
"start_pos": 194,
"end_pos": 194,
"sequence_org": "C",
"sequence_mut": "S",
"comment": "Decreases palmitoylation by 55%. Prevents palmitoylation; when associated with S-195. Targeted to Golgi and cytosol; when associated with E-42.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15498",
"url": "https://www.uniprot.org/uniprot/O15498"
},
{
"database": "PubMed",
"id": "15044687",
"url": "https://glygen.org/publication/PubMed/15044687"
},
{
"database": "PubMed",
"id": "15479160",
"url": "https://glygen.org/publication/PubMed/15479160"
}
]
},
{
"start_pos": 195,
"end_pos": 195,
"sequence_org": "C",
"sequence_mut": "S",
"comment": "Prevents farnesylation. Targeted to cytosol; when associated with E-42. Decreases palmitoylation by 13%. Prevents palmitoylation; when associated with S-194.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15498",
"url": "https://www.uniprot.org/uniprot/O15498"
},
{
"database": "PubMed",
"id": "15044687",
"url": "https://glygen.org/publication/PubMed/15044687"
},
{
"database": "PubMed",
"id": "15479160",
"url": "https://glygen.org/publication/PubMed/15479160"
}
]
},
{
"start_pos": 42,
"end_pos": 42,
"sequence_org": "F",
"sequence_mut": "E",
"comment": "Increases palmitoylation. Targeted to Golgi membranes. Targeted to Golgi and cytosol; when associated with S-194. Targeted to cytosol; when associated with S-195.",
"evidence": [
{
"database": "UniProtKB",
"id": "O15498",
"url": "https://www.uniprot.org/uniprot/O15498"
},
{
"database": "PubMed",
"id": "15044687",
"url": "https://glygen.org/publication/PubMed/15044687"
},
{
"database": "PubMed",
"id": "15479160",
"url": "https://glygen.org/publication/PubMed/15479160"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "79.83",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000106636",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000106636"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "80.75",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000106636",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000106636"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "87.38",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000106636",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000106636"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "81.88",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000106636",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000106636"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "93.16",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000106636",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000106636"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "95.65",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000106636",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000106636"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "76.81",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000106636",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000106636"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "83.61",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000106636",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000106636"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "90.87",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000106636",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000106636"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "70.68",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000106636",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000106636"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "84.58",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000106636",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000106636"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "93.8",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000106636",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000106636"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "90.79",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000106636",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000106636"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "up",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "O15498",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15498"
}
],
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
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],
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{
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"synonyms": [
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},
{
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{
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"name": "gastric cancer",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
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"name": "stomach cancer",
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},
{
"id": "MONDO:0001056",
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"name": "Ca body - stomach",
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},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
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}
]
}
]
},
{
"significant": "Yes",
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"url": "http://disease-ontology.org/term/DOID:11054",
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},
{
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},
{
"id": "MONDO:0001187",
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"name": "urinary bladder cancer",
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},
{
"id": "MONDO:0001187",
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"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"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",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"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": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "O15498",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15498"
}
],
"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": "O15498",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15498"
}
],
"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": "O15498",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15498"
}
],
"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": "O15498",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15498"
}
],
"disease": [
{
"disease_id": "DOID:1781",
"recommended_name": {
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid cancer",
"description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
},
"synonyms": [
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid gland cancer",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "Thyroid gland neoplasm",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant tumour of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "O15498",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15498"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "O15498",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15498"
}
],
"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": "O15498",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15498"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O15498",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15498"
}
],
"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": "up",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
"database": "BioXpress",
"id": "O15498",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15498"
}
],
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumour",
"description": ""
},
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"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694409"
}
]
},
{
"id": "R-HSA-5694418",
"name": "RAB1:GTP binds USO1 and GORASP1:GOLGA2",
"equation": "",
"summary": "Protein protein interactions involving activated RAB1:GTP help dock the ER-derived vesicle on the cis-Golgi membrane (reviewed in Lord et al, 2013) . Independently, RAB:GTP interacts with both the USO1 homodimer (a long coiled coil tethering factor also known as p115) and the GOLGA2 component of the GOLGA2:GORASP1 complex on the cis-Golgi membrane (Allan et al, 2000; Moyer et al, 2001; Weide et al, 2001). USO1 also contacts GOLGA2 directly (Nakamura et al, 1997; Seeman et al, 2000). t-SNARES such as STX5, GOSR1and GOSR2 also participate in this complex on the cis-ERGIC membrane (Brandon et al, 2006; Shorter et al, 2002; reviewed in Brandizzi and Barlowe, 2013).",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UBR2-1",
"P53634-1",
"P62820-1",
"O15498-1",
"Q9H0U4-1"
],
"evidence": [
{
"id": "R-HSA-5694418",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694418"
}
]
},
{
"id": "R-HSA-5694423",
"name": "NSF and SNAPs bind cis-SNARE complex",
"equation": "",
"summary": "After membrane fusion, the cis-SNARE complex is dissociated in an ATP-dependent fashion by the AAA protein NSF in conjunction with SNAP proteins (Mayer et al, 1996; Sollner et al, 1993; reviewed in Jahn and Scheller, 2006; Sudhof and Rothman, 2009).",
"cellular_location": "endoplasmic reticulum-Golgi intermediate compartment membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15498-1",
"P46459-1"
],
"evidence": [
{
"id": "R-HSA-5694423",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694423"
}
]
},
{
"id": "R-HSA-5694425",
"name": "NSF ATPase activity dissociates cis-SNARE",
"equation": "",
"summary": "NSF-dependent hydrolysis of ATP is required to disassociate the cis-SNARE complex, releasing the SNAREs for further rounds of membrane fusion (Mayer et al, 1996; Muller et al, 1999; Muller et al, 2002; Otto et al, 1997; Whiteheart et al, 2004; Yu et al, 1999; Zhao et al, 2012; Shah et al, 2015; reviewed in Sudhof and Rothman, 2009).",
"cellular_location": "endoplasmic reticulum-Golgi intermediate compartment membrane",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-5688142",
"R-HSA-5688147"
],
"enzyme_list": [
"O15498-1",
"P46459-1"
],
"evidence": [
{
"id": "R-HSA-5694425",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694425"
}
]
},
{
"id": "R-HSA-5694439",
"name": "COPII coat binds TRAPPCII and RAB1:GDP",
"equation": "",
"summary": "TRAPPC is a multi-subunit tethering complex that facilitates ER-to-Golgi traffic (reviewed in Barrowman et al, 2010; Brunet and Sacher, 2014). TRAPPC is a guanine-nucleotide exchange factor for RAB1 and is recruited to ER-derived vesicles by virtue of an interaction between the TRAPPC component TRAPPC3 and the coat protein SEC23 (Cai et al, 2007; Lord et al, 2011).",
"cellular_location": "COPII-coated ER to Golgi transport vesicle",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UBR2-1",
"P53634-1",
"P62820-1",
"O15498-1",
"Q9H0U4-1"
],
"evidence": [
{
"id": "R-HSA-5694439",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694439"
}
]
},
{
"id": "R-HSA-5694441",
"name": "CSNK1D phosphorylates SEC23",
"equation": "",
"summary": "Coat release at the ERGIC membrane may be stimulated by CSNK1D-dependent phosphorylation of SEC23 and SEC24 (Lord et al, 2011).",
"cellular_location": "endoplasmic reticulum-Golgi intermediate compartment membrane",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-5685740"
],
"enzyme_list": [
"Q9UBR2-1",
"P48730-1",
"P53634-1",
"P62820-1",
"O15498-1",
"Q9H0U4-1"
],
"evidence": [
{
"id": "R-HSA-5694441",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694441"
}
]
},
{
"id": "R-HSA-5694446",
"name": "BET1:GOSR2:STX5 bind v-SNARES on tethered vesicle",
"equation": "",
"summary": "After displacement of the COPII coat, a tetrameric SNAREpin forms between the v-SNARE and the three t-SNARE proteins (Hay et al, 1997; Hay et al, 1998; Hui et al, 1997; Bentley et al, 2006; reviewed in Hong and Lev 2014). This interaction is promoted by the tethering factor USO1 and by the STX5-interacting protein SCFD1 (Wang et al, 2014; Dascher and Balch, 1996; Cao and Barlowe 2000; Flanagan and Barlowe, 2006; reviewed in Lord et al, 2013). The zippering of the SNAREpin provides the mechanical force that drives membrane fusion, releasing cargo into the acceptor compartment (reviewed in Sudhof and Rothman, 2009).",
"cellular_location": "endoplasmic reticulum-Golgi intermediate compartment membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9UBR2-1",
"P53634-1",
"O15498-1"
],
"evidence": [
{
"id": "R-HSA-5694446",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694446"
}
]
},
{
"id": "R-HSA-6807875",
"name": "ARFGAP, cargo, v-SNAREs and p24 proteins bind nascent COPI complex",
"equation": "",
"summary": "Binding and polymerization of the coatomer (the COPI coat) is coordinated with the incorporation of cargo proteins and Golgi-targeting snares, as well as with recruitment of ARFGAP proteins (Letourneur et al, 1994; Nagahama et al,1996; Bremser et al, 1999).
Typical model cargo for COPI-mediated trafficking includes the viral glycoprotein VSV-G and proinsulin as well as the KDEL receptors, which bind and recycle ER-resident proteins and which themselves must be returned to post-ER compartments (Cosson and Letourner, 1994; Ben-Tekaya et al, 2005; Majoul et al, 2001; Orci et al, 1997, Bremser et al, 1999; Presley et al, 1997; reviewed in Beck et al, 2009).
Other protein components of the COPI vesicle include the p24 family of proteins, which serve diverse roles in the early secretory pathway (reviewed in Schuiki and Volchuk, 2012). Oligomeric p24 proteins interact with ADP-bound ARF and components of the COPI coat, contributing to coatomer recruitment and oligomerization (Gommel et al, 2001; Majoul et al, 2001; Bethune et al, 2006; Harter and Wieland, 1998; Langer et al, 2008; Reinhard et al, 1999). The p24 proteins also act as cargo receptors for various proteins destined for packaging in COPI vesicles; these include GPI-anchored transmembrane proteins, WNT ligands and some G-protein coupled receptors (Takida et al, 2008; Bonnon et al, 2010; Luo et al, 2011; Beuchling et al, 2011; Wang and Kazanietz, 2002; reviewed in Schuiki and Volchuk, 2012). Finally, the p24 proteins contribute to COPI coat disassembly by restricting ARF GTPase activity until cargo has been loaded (Goldberg, 2000; Lanoix et al, 2001).
ARFGAPs are recruited to the budding vesicle through direct interaction with active ARF, the cytoplasmic tails of cargo proteins and with components of the COPI coat (Goldberg, 2000; Majoul et al, 2001; Aoe et al, 1997; Kliouchnikov et al, 2009; Luo et al, 2009). Stimulation of ARF GTPase activity is coordinated with cargo recruitment to ensure that only cargo-loaded vesicles are produced (Goldberg, 2000; Luo et al, 2009).
Mammalian cells have 3 ARFGAPs that appear to be involved in COPI-mediated traffic, ARFGAP1,2 and 3 (Frigerio et al, 2007; Liu et al, 2001; Kahn et al, 2008). ARFGAP1 has a ALPS domain that recognizes membrane curvature and that is required for the GTPase stimulating activity of the protein, suggesting a mechanism for coordinating ARF1-mediated GTP hydrolysis with vesicle formation (Bigay et al, 2003; Mesmin et al, 2007). ARFGAP 2 and 3 do not contain this motif, and their activity is dependent upon interaction with coatomer (Weimar et al 2008; Kliouchnikov et al, 2009; Luo et al, 2009).
Finally, there is evidence that components of the ankyin/spectrin skeleton may be incorporated in the nascent COPI vesicle, acting as a bridge between cargo proteins and the dynein-dynactin complex required for their transport to the Golgi (Devarajan et al, 1997; Godi et al, 1998; Holleran et al, 1996; Holleran et al, 2001).",
"cellular_location": "endoplasmic reticulum-Golgi intermediate compartment membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P84077-1",
"P62820-1",
"O15498-1",
"Q9H0U4-1"
],
"evidence": [
{
"id": "R-HSA-6807875",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807875"
}
]
},
{
"id": "R-HSA-6807877",
"name": "ARFGAPs stimulate ARF GTPase activity",
"equation": "",
"summary": "The ARFGAP proteins stimulates ARF GTPase activity, promoting the release of the nascent COPI vesicle from the membrane and release of ARF:ADP (Tanigawa et al, 1993; reviewed in Beck et al, 2009; East and Kahn, 2011). Although this reaction shows their dissociation, it is not clear whether ARFGAPs persist on the COPI vesicle after GTP hydrolysis, nor is it known when GBF is released from the nascent COPI vesicle.
",
"cellular_location": "endoplasmic reticulum-Golgi intermediate compartment membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P84077-1",
"P62820-1",
"O15498-1",
"Q9H0U4-1"
],
"evidence": [
{
"id": "R-HSA-6807877",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807877"
}
]
},
{
"id": "R-HSA-6809003",
"name": "ERGIC-to-Golgi vesicles bind dynein:dynactin",
"equation": "",
"summary": "Unlike COPII-mediated traffic from the ER, COPI traffic to the Golgi is microtubule- and dynein-dependent (Scales et al, 1997; Presley et al, 1997; Ben-Tekaya et al, 2005). Recruitment of the dynein:dynactin complex may in turn rely on interaction with the ankyrin-spectrin network, which may contact integral membrane cargo proteins as they are incorporated into nascent COPI vesicles (Devarajan et al, 1997; Godi et al, 1998; Holleran et al, 1996; Holleran et al, 2001). Although not depicted in this reaction, dynein-dependent vesicle transport is energy dependent.",
"cellular_location": "transport vesicle",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P0DPH7-1",
"P68363-1",
"P62820-1",
"O15498-1",
"Q6PEY2-1",
"P68366-1",
"Q71U36-1",
"Q9H0U4-1",
"A6NHL2-1",
"Q9NY65-1",
"Q9BQE3-1",
"Q9H853-1",
"P0DPH8-1"
],
"evidence": [
{
"id": "R-HSA-6809003",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809003"
}
]
},
{
"id": "R-HSA-6809006",
"name": "Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex",
"equation": "",
"summary": "Vesicles tethering at the cis-Golgi is mediated both by long coiled-coil tethers and by large multisubunit complexes. Vesicle-bound USO1 homodimers associate with the Golgi localized GOLGA2:GORASP1 complex and with the Golgi-localized octameric COG tethering complex (Allan et al, 2000; Moyer et al, 2001; Weide et al, 2001; Nakamura et al, 1997; Seeman et al, 2000; Sohda et al, 2007). GOLGB1 is another Golgi localized tether that may facilitate vesicle tethering at the cis-Golgi, although it is also implicated in intra-Golgi retrograde trafficking (Linstedt and Hauri, 1993; Sonnichsen et al, 1998; Alvarez et al, 2001; Beard et al, 2005; reviewed in Appenzeller-Herzog et al, 2006). In addition to binding to USO1, the COG complex also interacts with components of the COPI coat, as well as with SNARE proteins and the TMEM115 protein (Suvorova et al, 2002; Zolov et al, 2005; Shestakova et al, 2007; Ong et al, 2014; reviewed in Willet et al, 2013).",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P0DPH7-1",
"P68363-1",
"P62820-1",
"O15498-1",
"Q6PEY2-1",
"P68366-1",
"Q71U36-1",
"Q9H0U4-1",
"A6NHL2-1",
"Q9NY65-1",
"Q9BQE3-1",
"Q9H853-1",
"P0DPH8-1"
],
"evidence": [
{
"id": "R-HSA-6809006",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809006"
}
]
},
{
"id": "R-HSA-6809010",
"name": "COPI vesicle uncoating",
"equation": "",
"summary": "The mechanisms of COPI vesicle uncoating are not well established (reviewed in Szul and Sztul, 2011). Coat dissociation may be promoted by changes in protein-protein interactions upon vesicle tethering, as has been suggested for retrograde COPI-traffic to the ER (Zink et al, 2009). After uncoating and membrane fusion, the SNARE complex exists as a four-helix bundle that must be \\unzipped\\ (dissociated) by NSF for reuse, an energetically costly event (reviewed in Hong and Lev, 2014; Sudhof and Rothman, 2009).",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62820-1",
"O15498-1",
"Q9H0U4-1"
],
"evidence": [
{
"id": "R-HSA-6809010",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809010"
}
]
},
{
"id": "R-HSA-6809011",
"name": "cis-Golgi t-SNAREs bind YKT6 on tethered vesicle",
"equation": "",
"summary": "Membrane fusion is mediated by the zippering of a four membered anti-parallel helix bundle formed by the v-SNARE and the three t-SNARES. t-SNARE complexes that are found at the cis-Golgi include STX5:GOSR1:GOSR2, STX5:GOSR1:BET1 and STX5:GOSR1:BET1L among others (Xu et al, 2002; Zhang et al 1997; Volchuk et al, 2004; reviewed in Willet et al, 2014; Szul and Sztul, 2011)",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62820-1",
"O15498-1",
"Q9H0U4-1"
],
"evidence": [
{
"id": "R-HSA-6809011",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809011"
}
]
},
{
"id": "R-HSA-6809014",
"name": "cis-Golgi cis-SNARE binds NSF and SNAPs",
"equation": "",
"summary": "After membrane fusion, the cis-SNARE complex is dissociated in an ATP-dependent fashion by the AAA protein NSF in conjunction with SNAP proteins (Mayer et al, 1996; Sollner et al, 1993; reviewed in Jahn and Scheller, 2006; Sudhof and Rothman, 2009).",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15498-1",
"P46459-1"
],
"evidence": [
{
"id": "R-HSA-6809014",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809014"
}
]
},
{
"id": "R-HSA-6809015",
"name": "NSF ATPase activity dissociates cis-SNARE at cis-Golgi",
"equation": "",
"summary": "NSF-dependent hydrolysis of ATP is required to disassociate the cis-SNARE complex, releasing the SNAREs for further rounds of membrane fusion (Mayer et al, 1996; Muller et al, 1999; Muller et al, 2002; Otto et al, 1997; Whiteheart et al, 2004; Yu et al, 1999; Zhao et al, 2012; Shah et al, 2015; reviewed in Sudhof and Rothman, 2009).",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-6807743",
"R-HSA-6807755"
],
"enzyme_list": [
"O15498-1",
"P46459-1"
],
"evidence": [
{
"id": "R-HSA-6809015",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809015"
}
]
},
{
"id": "R-HSA-8847544",
"name": "The COG complex and CUX1 and GOLGA5 dimers contribute to intra-Golgi vesicle tethering",
"equation": "",
"summary": "Dimeric medial Golgins CUX1 (also known as CASP) and GOLGA5 (also known as Golgin-84) act in conjunction with the COG complex to tether retrograde vesicles moving within the Golgi stacks (Bascom et al, 1999; Gillingham et al, 2002; Malsam et al, 2005; Sohda et al, 2007; Sohda et al, 2010; reviewedin Szul and Sztul, 2011). Intra-Golgi vesicles are COPI-dependent, but distinct from anterograde ERGIC-to-Golgi COPI vesicles by virtue of their cargo (generally returning Golgi and ER-resident enzymes to their appropriate location in the secretory pathway, and notably lacking p24 family members; other intra Golgi cargo includes toxins such as Shiga) and the SNARE complexes they interact with (Orci et al, 1997; Lanoix et al, 2001; Malsam et al, 2005). The yeast homologue of GOLGA5, COY1, shows a genetic interaction with yeast SNARE GOS1 (human GOSR1), suggesting the intra-Golgi vesicles may rely on a GOSR1:STX5:BET1L and YKT6 SNARE complex, though the identity of the t-SNARE complex remains to be substantiated (Gillingham et al, 2002; Sohda et al, 2010). Removal of the COPI-coat is required prior to CUX1- and GOLGA5-mediated vesicle tethering (Malsam et al, 2005). Intra-Golgi transport also depends on medial RAB protein RAB33b (Jiang et al, 2005; Valsdottir et al, 2001; Pusapati et al, 2012; Starr et al, 2010). Disruption of RAB33b abolishes retrograde traffic of Shiga toxin from the trans- to cis-Golgi, and abolishes the RAB6-dependent relocalization of Golgi resident enzymes. This suggests that RAB6 and RAB33b may form sequentially acting RAB cascade that mediates intra-Golgi traffic (Starr et al, 2010; Pusapati et al, 2012). RAB33b has also been shown to interact with the RAB6 GEF RIC1:RGP1, although the significance of this interaction is unclear. In addition, RAB33b interacts by co-immunoprecipitation with endosomal proteins RABEP1 (also known as Rabaptin-5), RABGEF1 (Rabex5) and KIF20A (Rabkinesin 6); the relevance of these interactions is likewise unknown (Valsdottir et al, 2001).",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15498-1",
"Q9NR34-1",
"P49641-3",
"O60476-1",
"P33908-1",
"Q16706-1"
],
"evidence": [
{
"id": "R-HSA-8847544",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8847544"
}
]
},
{
"id": "R-HSA-8847635",
"name": "Formation of cis-SNARE complex and membrane fusion in intra-Golgi retrograde traffic",
"equation": "",
"summary": "Formation of the cis-SNARE complex accompanies membrane fusion, releasing the intra-Golgi cargo into the subsequent Golgi stack and allowing tethering factors to be recycled for subsequent rounds of docking (reviewed in Sudhof and Rothman 2009; Hong and Lev, 2014).",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15498-1",
"Q9NR34-1",
"P49641-3",
"O60476-1",
"P33908-1",
"Q16706-1"
],
"evidence": [
{
"id": "R-HSA-8847635",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8847635"
}
]
},
{
"id": "R-HSA-8847637",
"name": "NSF and SNAPs bind the cis-SNARE at the Golgi",
"equation": "",
"summary": "The cis-SNARE complex of STX5:PalmC-YKT6:BET1L:GOSR1 binds the NSF hexamer and alpha-SNAPs prior to the energy dependent disassembly for reuse (reviewed in Sudhof and Rothman, 2009; Hong and Lev, 2014).",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15498-1",
"P46459-1"
],
"evidence": [
{
"id": "R-HSA-8847637",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8847637"
}
]
},
{
"id": "R-HSA-8847638",
"name": "ATP hydrolysis by NSF disassembles the cis-SNARE at the Golgi membrane",
"equation": "",
"summary": "NSF-mediated ATP hydrolysis promotes disassembly of the cis-SNARE complex, allowing the SNAREs to be reused in subsequent rounds of vesicle fusion (reviewed in Sudhof and Rothman, 2009; Hong and Lev, 2014).",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-6807744",
"R-HSA-6807753",
"R-HSA-6807771",
"R-HSA-6808792"
],
"enzyme_list": [
"O15498-1",
"P46459-1"
],
"evidence": [
{
"id": "R-HSA-8847638",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8847638"
}
]
},
{
"id": "R-HSA-9013004",
"name": "RHOA binds effectors at the ER membrane",
"equation": "",
"summary": "Kinectin, a kinesin anchor involved in kinesin mediated vesicle motility, interacts with the GTP bound (active) form of RHOA (Hotta et al. 1996, Alberts et al. 1998, Vignal et al. 2001).
The following endoplasmic reticulum proteins have been identified as putative RHOA effectors in the high throughput screen by Bagci et al. and are annotated as candidate RHOA effectors:
ATP6AP1 (Bagci et al. 2020)
BCAP31 (Bagci et al. 2020)
CCDC115 (Bagci et al. 2020)
DDRGK1 (Bagci et al. 2020)
EMC3 (Bagci et al. 2020)
LBR (Bagci et al. 2020)
LMAN1 (Bagci et al. 2020)
MACO1 (Bagci et al. 2020)
PGRMC2 (Bagci et al. 2020)
STX5 (Bagci et al. 2020)
TEX2 (Bagci et al. 2020)
TMEM87A (Bagci et al. 2020)
VAPB (Bagci et al. 2020)
YKT6 (Bagci et al. 2020)",
"cellular_location": "endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P61586-1",
"O15498-1",
"Q14739-1"
],
"evidence": [
{
"id": "R-HSA-9013004",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013004"
}
]
},
{
"id": "R-HSA-9014467",
"name": "RHOG binds effectors at the ER membrane",
"equation": "",
"summary": "Active GTP-bound RHOG binds to and activates kinectin (KTN1) at the endoplasmic reticulum membrane (Vignal et al. 2001).
In addition, active RHOG binds to the following candidate endoplasmic reticulum membrane effectors identified in the high throughput screen by Bagci et al. 2020:
ANKLE2 (Bagci et al. 2020)
EMD (Bagci et al. 2020)
ESYT1 (Bagci et al. 2020)
LBR (Bagci et al. 2020)
LEMD3 (Bagci et al. 2020)
LETM1 (Bagci et al. 2020)
LMAN1 (Bagci et al. 2020)
NDUFA5 (Bagci et al. 2020)
PGRMC2 (Bagci et al. 2020)
STX5 (Bagci et al. 2020)
VAPB (Bagci et al. 2020)
VRK2 (Bagci et al. 2020)
YKT6 (Bagci et al. 2020)",
"cellular_location": "endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q86Y07-1",
"O15498-1",
"Q14739-1"
],
"evidence": [
{
"id": "R-HSA-9014467",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9014467"
}
]
},
{
"id": "R-HSA-9691174",
"name": "RAC1 binds effectors at the ER membrane",
"equation": "",
"summary": "In its GTP bound active form, endoplasmic reticulum membrane associated RAC1 binds to and activates KTN1 (Hotta et al. 1996).
The following endoplasmic reticulum proteins have been identified as putative RAC1 effectors in the high throughput screen by Bagci et al. 2020 and are annotated as candidate RAC1 effectors:
EMD (Bagci et al. 2020)
ESYT1 (Bagci et al. 2020)
LBR (Bagci et al. 2020)
LEMD3 (Bagci et al. 2020)
VRK2 (Bagci et al. 2020)
YKT6 (Bagci et al. 2020)",
"cellular_location": "endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P63000-1",
"Q86Y07-1",
"O15498-1",
"Q14739-1"
],
"evidence": [
{
"id": "R-HSA-9691174",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9691174"
}
]
},
{
"id": "R-HSA-9692809",
"name": "CDC42 binds effectors at the ER membrane",
"equation": "",
"summary": "Activated GTP-bound CDC42 binds to kinectin (KTN1) at the endoplasmic reticulum membrane (Hotta et al. 1996).
Active CDC42 also binds the following candidate effectors at the endoplasmic reticulum membrane identified in the screen by Bagci et al. 2020:
LBR (Bagci et al. 2020)
YKT6 (Bagci et al. 2020);",
"cellular_location": "endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P60953-2",
"O15498-1",
"Q14739-1"
],
"evidence": [
{
"id": "R-HSA-9692809",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9692809"
}
]
},
{
"id": "R-HSA-9714691",
"name": "RAC3 binds ER effectors",
"equation": "",
"summary": "Active RAC3 binds to the following candidate effectors that are known to localize to the endoplasmic reticulum membrane:
EMD (Bagci et al. 2020)
ESYT1 (Bagci et al. 2020)
LBR (Bagci et al. 2020)
LEMD3 (Bagci et al. 2020)
LMAN1 (Bagci et al. 2020)
NRBP (De Langhe et al. 2002)
PGRMC2 (Bagci et al. 2020)
VRK2 (Bagci et al. 2020)
YKT6 (Bagci et al. 2020)",
"cellular_location": "endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P60763-1",
"Q86Y07-1",
"O15498-1",
"Q14739-1"
],
"evidence": [
{
"id": "R-HSA-9714691",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9714691"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-HSA-5685740",
"participant_name": "p-S738,T744 SEC23A [cytosol]",
"crossref": [
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"id": "5KYU",
"database": "PDB",
"url": ""
},
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"id": "2YRD",
"database": "PDB",
"url": ""
},
{
"id": "5VNM",
"database": "PDB",
"url": ""
},
{
"id": "5VNL",
"database": "PDB",
"url": ""
},
{
"id": "2NUT",
"database": "PDB",
"url": ""
},
{
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"url": ""
},
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"database": "PDB",
"url": ""
},
{
"id": "ENSP00000306881",
"database": "Ensembl",
"url": ""
},
{
"id": "2YRC",
"database": "PDB",
"url": ""
},
{
"id": "Q15436",
"database": "PRO",
"url": ""
},
{
"id": "5VNE",
"database": "PDB",
"url": ""
},
{
"id": "5VNN",
"database": "PDB",
"url": ""
},
{
"id": "5VNJ",
"database": "PDB",
"url": ""
},
{
"id": "5VNO",
"database": "PDB",
"url": ""
},
{
"id": "Q15436",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "5VNK",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000307712",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_006355.2",
"database": "RefSeq",
"url": ""
},
{
"id": "Q15436",
"database": "UniProt",
"url": ""
},
{
"id": "5VNF",
"database": "PDB",
"url": ""
},
{
"id": "5KYN",
"database": "PDB",
"url": ""
},
{
"id": "5VNH",
"database": "PDB",
"url": ""
},
{
"id": "Q15436",
"database": "GeneCards",
"url": ""
},
{
"id": "2NUP",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000100934",
"database": "Ensembl",
"url": ""
},
{
"id": "15265",
"database": "Orphanet",
"url": ""
},
{
"id": "3EGX",
"database": "PDB",
"url": ""
},
{
"id": "3EGD",
"database": "PDB",
"url": ""
},
{
"id": "5KYY",
"database": "PDB",
"url": ""
},
{
"id": "3EG9",
"database": "PDB",
"url": ""
},
{
"id": "5KYX",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000444193",
"database": "Ensembl",
"url": ""
},
{
"id": "5VNG",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000100934",
"database": "OpenTargets",
"url": ""
},
{
"id": "ENST00000537403",
"database": "Ensembl",
"url": ""
},
{
"id": "5VNI",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000100934-SEC23A",
"database": "HPA",
"url": ""
}
]
},
{
"participant_id": "R-HSA-5688142",
"participant_name": "BET1 [endoplasmic reticulum-Golgi intermediate compartment membrane]",
"crossref": [
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"database": "Ensembl",
"url": ""
},
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"url": ""
},
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"id": "NP_001304668.1",
"database": "RefSeq",
"url": ""
},
{
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"url": ""
},
{
"id": "ENSG00000105829-BET1",
"database": "HPA",
"url": ""
},
{
"id": "3EGX",
"database": "PDB",
"url": ""
},
{
"id": "O15155",
"database": "PRO",
"url": ""
},
{
"id": "ENST00000222547",
"database": "Ensembl",
"url": ""
},
{
"id": "O15155",
"database": "UniProt",
"url": ""
},
{
"id": "ENSP00000222547",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000433727",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_005859.1",
"database": "RefSeq",
"url": ""
}
]
},
{
"participant_id": "R-HSA-5688147",
"participant_name": "SCFD1 [cytosol]",
"crossref": [
{
"id": "Q8WVM8",
"database": "Pharos - Targets",
"url": ""
},
{
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"database": "Ensembl",
"url": ""
},
{
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"url": ""
},
{
"id": "ENSP00000390783",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000092108-SCFD1",
"database": "HPA",
"url": ""
},
{
"id": "NP_057190.2",
"database": "RefSeq",
"url": ""
},
{
"id": "ENST00000544052",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000092108",
"database": "OpenTargets",
"url": ""
},
{
"id": "ENST00000678124",
"database": "Ensembl",
"url": ""
},
{
"id": "Q8WVM8",
"database": "UniProt",
"url": ""
},
{
"id": "ENSG00000092108",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000396629",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_001269961.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENST00000458591",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_001244305.1",
"database": "RefSeq",
"url": ""
},
{
"id": "NP_878255.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSP00000379870",
"database": "Ensembl",
"url": ""
},
{
"id": "Q8WVM8",
"database": "GeneCards",
"url": ""
},
{
"id": "ENSP00000443010",
"database": "Ensembl",
"url": ""
}
]
},
{
"participant_id": "R-HSA-6807743",
"participant_name": "BET1 [Golgi membrane]",
"crossref": [
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"database": "PDB",
"url": ""
},
{
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"database": "PRO",
"url": ""
},
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"url": ""
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"database": "Ensembl",
"url": ""
},
{
"id": "NP_005859.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSP00000222547",
"database": "Ensembl",
"url": ""
},
{
"id": "O15155",
"database": "UniProt",
"url": ""
},
{
"id": "ENSG00000105829",
"database": "OpenTargets",
"url": ""
},
{
"id": "ENSP00000391228",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_001304668.1",
"database": "RefSeq",
"url": ""
},
{
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"database": "HPA",
"url": ""
},
{
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"database": "GeneCards",
"url": ""
},
{
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"database": "Pharos - Targets",
"url": ""
},
{
"id": "ENSG00000105829",
"database": "Ensembl",
"url": ""
}
]
},
{
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"participant_name": "BET1L [Golgi membrane]",
"crossref": [
{
"id": "Q9NYM9",
"database": "PRO",
"url": ""
},
{
"id": "Q9NYM9",
"database": "GeneCards",
"url": ""
},
{
"id": "NP_001092257.1",
"database": "RefSeq",
"url": ""
},
{
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"url": ""
},
{
"id": "ENST00000382762",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000177951-BET1L",
"database": "HPA",
"url": ""
},
{
"id": "ENSP00000372210",
"database": "Ensembl",
"url": ""
},
{
"id": "Q9NYM9",
"database": "UniProt",
"url": ""
},
{
"id": "ENSG00000177951",
"database": "Ensembl",
"url": ""
},
{
"id": "Q9NYM9",
"database": "Pharos - Targets",
"url": ""
}
]
},
{
"participant_id": "R-HSA-6807753",
"participant_name": "GOSR1 [Golgi membrane]",
"crossref": [
{
"id": "ENST00000467337",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_004862.1",
"database": "RefSeq",
"url": ""
},
{
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"database": "HPA",
"url": ""
},
{
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"url": ""
},
{
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},
{
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},
{
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"url": ""
},
{
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"url": ""
},
{
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"url": ""
},
{
"id": "NP_001007025.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSG00000108587",
"database": "Ensembl",
"url": ""
},
{
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"database": "PRO",
"url": ""
},
{
"id": "O95249",
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"url": ""
},
{
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"url": ""
},
{
"id": "ENST00000225724",
"database": "Ensembl",
"url": ""
}
]
},
{
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"database": "Pharos - Targets",
"url": ""
},
{
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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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"url": ""
}
]
},
{
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"crossref": [
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"url": ""
},
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},
{
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{
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{
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},
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}
]
},
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"url": ""
},
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"url": ""
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"url": ""
},
{
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"url": ""
},
{
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"url": ""
},
{
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"url": ""
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{
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"url": ""
},
{
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"url": ""
},
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"url": ""
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{
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"url": ""
},
{
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"url": ""
},
{
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"url": ""
}
]
}
],
"reaction_enzymes": [
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"gene_name": "TUBAL3",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
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"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A6NHL2"
}
]
}
]
},
{
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"gene_name": "YKT6",
"activity": [
{
"ec_number": "2.3.1.-",
"activity": "",
"evidence": [
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"id": "O15498",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15498"
}
]
}
]
},
{
"uniprot_ac": "O60476",
"gene_name": "MAN1A2",
"activity": [
{
"ec_number": "3.2.1.-",
"activity": "",
"evidence": [
{
"id": "O60476",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60476"
}
]
},
{
"ec_number": "3.2.1.113",
"activity": "3 H2O + N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 8A1,2,3B1,3) = 3 beta-D-mannose + N(4)-(alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 5A1,2).",
"evidence": [
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"id": "O60476",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60476"
}
]
},
{
"ec_number": "3.2.1.113",
"activity": "",
"evidence": [
{
"id": "O60476",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60476"
}
]
}
]
},
{
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"gene_name": "TUBA3C",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
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"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P0DPH7"
}
]
}
]
},
{
"uniprot_ac": "P0DPH8",
"gene_name": "TUBA3D",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "P0DPH8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P0DPH8"
}
]
}
]
},
{
"uniprot_ac": "P33908",
"gene_name": "MAN1A1",
"activity": [
{
"ec_number": "3.2.1.113",
"activity": "3 H2O + N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 8A1,2,3B1,3) = 3 beta-D-mannose + N(4)-(alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 5A1,2).",
"evidence": [
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"id": "P33908",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P33908"
}
]
},
{
"ec_number": "3.2.1.113",
"activity": "",
"evidence": [
{
"id": "P33908",
"database": "UniProtKB",
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}
]
}
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{
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{
"ec_number": "3.6.4.6",
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"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P46459"
}
]
},
{
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"activity": "",
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"database": "UniProtKB",
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}
]
}
]
},
{
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{
"ec_number": "2.7.11.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
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"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P48730"
}
]
},
{
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"activity": "ATP + L-seryl-[tau protein] = ADP + H(+) + O-phospho-L-seryl-[tau protein].",
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"database": "UniProtKB",
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}
]
},
{
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}
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"database": "UniProtKB",
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}
]
}
]
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"database": "UniProtKB",
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}
]
},
{
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"activity": "",
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"database": "UniProtKB",
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}
]
}
]
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{
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"database": "UniProtKB",
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}
]
},
{
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}
]
}
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{
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"activity": "GTP + H2O = GDP + H(+) + phosphate.",
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"database": "UniProtKB",
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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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