{ "uniprot_canonical_ac": "O95406-1", "uniprot_ac": "O95406", "uniprot_id": "CNIH1_HUMAN", "mass": { "chemical_mass": 16699.0, "monoisotopic_mass": 16699.0 }, "refseq": { "ac": "NP_005767", "name": "protein cornichon homolog 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005767" }, "gene_names": [ { "name": "CNIH1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95406", "id": "O95406" }, { "name": "CNIH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005767", "id": "NP_005767" }, { "name": "CNIH; CNIH-1; CNIL; TGAM77", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005767", "id": "NP_005767" }, { "name": "CNIH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95406", "id": "O95406" }, { "name": "CNIL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95406", "id": "O95406" }, { "name": "PRO181", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95406", "id": "O95406" }, { "name": "hCG_1785850", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95406", "id": "O95406" } ], "protein_names": [ { "name": "Protein cornichon homolog 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95406" }, { "name": "CNIH-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95406" }, { "name": "Cornichon family AMPA receptor auxiliary protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95406" }, { "name": "Protein cornichon homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95406" }, { "name": "T-cell growth-associated molecule 77; cornichon homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005767", "id": "NP_005767" }, { "name": "T-cell growth-associated molecule 77", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95406" }, { "name": "TGAM77", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95406" }, { "name": "protein cornichon homolog 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005767", "id": "NP_005767" } ], "function": [ { "annotation": "Human CNIH and Drosophila Cni are primarily localized in the endoplasmic reticulum and associate with immature TGFalpha family proteins; alterations of cornichon expression result in changes in transport, processing and secretion of TGFalpha proteins", "evidence": [ { "database": "RefSeq", "id": "NP_005767", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005767" }, { "database": "PubMed", "id": "17607000", "url": "https://glygen.org/publication/PubMed/17607000" } ] }, { "annotation": "Involved in the selective transport and maturation of TGF-alpha family proteins.", "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406#function" }, { "database": "PubMed", "id": "17607000", "url": "https://glygen.org/publication/PubMed/17607000" } ] }, { "annotation": "Significant upregulation of CNIH-1 mRNA expression was found in schizophrenia.", "evidence": [ { "database": "RefSeq", "id": "NP_005767", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005767" }, { "database": "PubMed", "id": "23103966", "url": "https://glygen.org/publication/PubMed/23103966" } ] }, { "annotation": "The modulation of AMPA receptors by CNIH-2 depends upon the Transmembrane AMPA receptor regulatory protein isoform composition within the receptor complex", "evidence": [ { "database": "RefSeq", "id": "NP_005767", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005767" }, { "database": "PubMed", "id": "22211840", "url": "https://glygen.org/publication/PubMed/22211840" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "92.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "97.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "93.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "86.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "90.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "87.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95406", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95406" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95406", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95406" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95406", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95406" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95406", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95406" } ], "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": "O95406", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95406" } ], "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": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95406", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95406" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95406", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95406" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95406", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95406" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95406", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95406" } ], "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": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95406", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95406" } ], "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": "O95406", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95406" } ], "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": "No", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O95406", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95406" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406" } ], "common_name": "Human" } ], "gene": [ { "name": "CNIH1", "url": "https://www.uniprot.org/uniprot/O95406", "locus": { "chromosome": "14", "start_pos": 54423561, "end_pos": 54441391, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000100528", "url": "https://www.ensembl.org/id/ENSG00000100528" } ] } } ], "crossref": [ { "id": "ENSG00000100528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100528", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "CNIH1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10175", "url": "https://www.ncbi.nlm.nih.gov/gene/10175", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "19431", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=19431", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95406", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95406*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003377", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003377", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033466", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033466", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10175", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10175", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "611287", "url": "http://www.omim.org/entry/611287", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95406", "url": "https://www.nextprot.org/entry/NX_O95406", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "IAYHVWR", "url": "https://omabrowser.org/oma/group/IAYHVWR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2872997at2759", "url": "http://www.orthodb.org/?query=2872997at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12290", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12290", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12290:SF10", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12290:SF10", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03311", "url": "http://pfam.xfam.org/family/PF03311", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95406", "url": "https://pharos.nih.gov/targets/O95406", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95406", "url": "http://purl.obolibrary.org/obo/PR_O95406", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_005767", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005767", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A8MVW4", "url": "https://www.uniprot.org/uniprot/A8MVW4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MVW4-1", "url": "https://www.uniprot.org/uniprot/A8MVW4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3B2", "url": "https://www.uniprot.org/uniprot/G3V3B2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3B2-1", "url": "https://www.uniprot.org/uniprot/G3V3B2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V474", "url": "https://www.uniprot.org/uniprot/G3V474", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V474-1", "url": "https://www.uniprot.org/uniprot/G3V474-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V4K0", "url": "https://www.uniprot.org/uniprot/G3V4K0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V4K0-1", "url": "https://www.uniprot.org/uniprot/G3V4K0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V5P8", "url": "https://www.uniprot.org/uniprot/G3V5P8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V5P8-1", "url": "https://www.uniprot.org/uniprot/G3V5P8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V5Q6", "url": "https://www.uniprot.org/uniprot/G3V5Q6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V5Q6-1", "url": "https://www.uniprot.org/uniprot/G3V5Q6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95406-1", "url": "https://www.uniprot.org/uniprot/O95406-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAFTFAAFCYMLALLLTAALIFFAIWHIIAFDELKTDYKNPIDQCNTLNPLVLPEYLIHAFFCVMFLCAAEWLTLGLNMPLLAYHIWRYMSRPVMSGPGLYDPTTIMNADILAYCQKEGWCKLAFYLLAFFYYLYGMIYVLVSS", "length": 144, "header": "sp|O95406-1|CNIH1_HUMAN Isoform 1 of Protein cornichon homolog 1 OS=Homo sapiens OX=9606 GN=CNIH1 PE=1 SV=1 CANONICAL=O95406-1" }, "isoforms": [ { "isoform_ac": "A8MVW4-1", "url": "", "sequence": { "sequence": "MAFTFAAFCYMLALLLTAALIFFAIWHIIAFDELKTDYKNPIDQCNTLNPLVLPEYLIHAFFCVMFLCAAEWLTLGLNMPLLAYHIWSMIYVLVSS", "length": 96, "header": "tr|A8MVW4-1|CNIH1_HUMAN Computationally mapped isoform of Protein cornichon homolog 1 OS=Homo sapiens OX=9606 GN=CNIH1 PE=1 SV=2 CANONICAL=O95406-1" }, "locus": { "chromosome": "14", "start_pos": 54441327, "end_pos": 54427817, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395573.8", "url": "https://www.ensembl.org/id/ENST00000395573.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000378940.4", "url": "https://www.ensembl.org/id/ENSP00000378940.4" } ] } }, { "isoform_ac": "G3V3B2-1", "url": "", "sequence": { "sequence": "MAFTFAAFCYMLALLLTAALIFFAIWHIIAFDELKTDYKNPIDQCNTLNPLVLPEYLIHAFFCVMFLCAAEWLTLGLNMPLLAYHIWRYMSRPVMSGPGLYDPTTIMNADILAYCQKEGWCKLAFYLLAFFYYLYG", "length": 136, "header": "tr|G3V3B2-1|G3V3B2_HUMAN Computationally mapped isoform of Cornichon family AMPA receptor auxiliary protein 1 OS=Homo sapiens OX=9606 GN=CNIH1 PE=1 SV=1 CANONICAL=O95406-1" }, "locus": { "chromosome": "14", "start_pos": 54441327, "end_pos": 54430260, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556113.1", "url": "https://www.ensembl.org/id/ENST00000556113.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451142.1", "url": "https://www.ensembl.org/id/ENSP00000451142.1" } ] } }, { "isoform_ac": "G3V474-1", "url": "", "sequence": { "sequence": "MAFTFAAFCYMLALLLTAALIFFAIWHIIAFDELKTDYKNPIDQCNTLNPVYE", "length": 53, "header": "tr|G3V474-1|CNIH1_HUMAN Computationally mapped isoform of Protein cornichon homolog 1 OS=Homo sapiens OX=9606 GN=CNIH1 PE=1 SV=1 CANONICAL=O95406-1" }, "locus": { "chromosome": "14", "start_pos": 54441327, "end_pos": 54430396, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557659.5", "url": "https://www.ensembl.org/id/ENST00000557659.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451640.1", "url": "https://www.ensembl.org/id/ENSP00000451640.1" } ] } }, { "isoform_ac": "G3V4K0-1", "url": "", "sequence": { "sequence": "MAFTFAAFCYMLALLLTAALIFFAIWHIIAFDELKTDYKNPIDQCNTLNPTVEKVKKIKRVKIALKLVLPEYLIHAFFCVMFLCAAEWLTLGLNMPLLAYHIWRYMSRPVMSGPGLYDPTTIMNADILAYCQKEGWCKLAFYLLAFFYYLYGMIYVLVSS", "length": 160, "header": "tr|G3V4K0-1|G3V4K0_HUMAN Computationally mapped isoform of Cornichon homolog (Drosophila), isoform CRA_c OS=Homo sapiens OX=9606 GN=CNIH1 PE=1 SV=1 CANONICAL=O95406-1" }, "locus": { "chromosome": "14", "start_pos": 54441327, "end_pos": 54427817, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557690.5", "url": "https://www.ensembl.org/id/ENST00000557690.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451852.1", "url": "https://www.ensembl.org/id/ENSP00000451852.1" } ] } }, { "isoform_ac": "G3V5P8-1", "url": "", "sequence": { "sequence": "MAFTFAAFCYMLALLLTAALIFFAIWHLVLPEYLIHAFFCVMFLCAAEWLTLGLNMPLLAYHIWRYMSRPVMSGPGLYDPTTIMNADILAYCQKEGWCKLAFYLLAFFYYLYGMIYVLVSS", "length": 121, "header": "tr|G3V5P8-1|G3V5P8_HUMAN Computationally mapped isoform of Cornichon family AMPA receptor auxiliary protein 1 OS=Homo sapiens OX=9606 GN=CNIH1 PE=1 SV=1 CANONICAL=O95406-1" }, "locus": { "chromosome": "14", "start_pos": 54441327, "end_pos": 54427817, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553660.5", "url": "https://www.ensembl.org/id/ENST00000553660.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452457.1", "url": "https://www.ensembl.org/id/ENSP00000452457.1" } ] } }, { "isoform_ac": "G3V5Q6-1", "url": "", "sequence": { "sequence": "MAFTFAAFCYMLALLLTAALIFFAIWHDKEEFG", "length": 33, "header": "tr|G3V5Q6-1|G3V5Q6_HUMAN Computationally mapped isoform of Cornichon family AMPA receptor auxiliary protein 1 OS=Homo sapiens OX=9606 GN=CNIH1 PE=4 SV=1 CANONICAL=O95406-1" }, "locus": { "chromosome": "14", "start_pos": 54441327, "end_pos": 54436768, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554683.1", "url": "https://www.ensembl.org/id/ENST00000554683.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000452466.1", "url": "https://www.ensembl.org/id/ENSP00000452466.1" } ] } }, { "isoform_ac": "O95406-1", "url": "", "sequence": { "sequence": "MAFTFAAFCYMLALLLTAALIFFAIWHIIAFDELKTDYKNPIDQCNTLNPLVLPEYLIHAFFCVMFLCAAEWLTLGLNMPLLAYHIWRYMSRPVMSGPGLYDPTTIMNADILAYCQKEGWCKLAFYLLAFFYYLYGMIYVLVSS", "length": 144, "header": "sp|O95406-1|CNIH1_HUMAN Isoform 1 of Protein cornichon homolog 1 OS=Homo sapiens OX=9606 GN=CNIH1 PE=1 SV=1 CANONICAL=O95406-1" }, "locus": { "chromosome": "14", "start_pos": 54441327, "end_pos": 54427817, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000216416.9", "url": "https://www.ensembl.org/id/ENST00000216416.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000216416.4", "url": "https://www.ensembl.org/id/ENSP00000216416.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "The human homolog of Drosophila cornichon protein is differentially expressed in alloactivated T-cells.", "journal": "Biochim. Biophys. Acta", "date": "1999", "authors": "Utku N, Bulwin G C, Beinke S, Heinemann T, Beato F, Randall J, Schnieders B, Sandhoff K, Volk H D, Milford E, Gullans S R", "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406" } ], "reference": [ { "type": "PubMed", "id": "10209299", "url": "https://glygen.org/publication/PubMed/10209299" } ] }, { "title": "NSF N-terminal domain crystal structure: models of NSF function.", "journal": "Molecular cell", "date": "1999", "authors": "Yu RC, Jahn R, Brunger AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10445031", "url": "https://glygen.org/publication/PubMed/10445031" } ] }, { "title": "The lectin ERGIC-53 is a cargo transport receptor for glycoproteins.", "journal": "Nature cell biology", "date": "1999", "authors": "Appenzeller C, Andersson H, Kappeler F, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "10559958", "url": "https://glygen.org/publication/PubMed/10559958" } ] }, { "title": "An NSF function distinct from ATPase-dependent SNARE disassembly is essential for Golgi membrane fusion.", "journal": "Nature cell biology", "date": "1999", "authors": "Muller JM, Rabouille C, Newman R, Shorter J, Freemont P, Schiavo G, Warren G, Shima DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10559959", "url": "https://glygen.org/publication/PubMed/10559959" } ] }, { "title": "ERGIC-53 and traffic in the secretory pathway.", "journal": "Journal of cell science", "date": "2000", "authors": "Hauri HP, Kappeler F, Andersson H, Appenzeller C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "10652252", "url": "https://glygen.org/publication/PubMed/10652252" } ] }, { "title": "The role of the tethering proteins p115 and GM130 in transport through the Golgi apparatus in vivo.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Seemann J, Jokitalo EJ, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10679020", "url": "https://glygen.org/publication/PubMed/10679020" } ] }, { "title": "Asymmetric requirements for a Rab GTPase and SNARE proteins in fusion of COPII vesicles with acceptor membranes.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Cao X, Barlowe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10747087", "url": "https://glygen.org/publication/PubMed/10747087" } ] }, { "title": "COPI-coated ER-to-Golgi transport complexes segregate from COPII in close proximity to ER exit sites.", "journal": "Journal of cell science", "date": "2000", "authors": "Stephens DJ, Lin-Marq N, Pagano A, Pepperkok R, Paccaud JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10825291", "url": "https://glygen.org/publication/PubMed/10825291" } ] }, { "title": "Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Allan BB, Moyer BD, Balch WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10903204", "url": "https://glygen.org/publication/PubMed/10903204" } ] }, { "title": "Dynamics of transitional endoplasmic reticulum sites in vertebrate cells.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Hammond AT, Glick BS", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10982397", "url": "https://glygen.org/publication/PubMed/10982397" } ] }, { "title": "Subunit structure of a mammalian ER/Golgi SNARE complex.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Xu D, Joglekar AP, Williams AL, Hay JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "11035026", "url": "https://glygen.org/publication/PubMed/11035026" } ] }, { "title": "Rab1 interaction with a GM130 effector complex regulates COPII vesicle cis--Golgi tethering.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2001", "authors": "Moyer BD, Allan BB, Balch WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "11285137", "url": "https://glygen.org/publication/PubMed/11285137" } ] }, { "title": "The Golgi matrix protein GM130: a specific interacting partner of the small GTPase rab1b.", "journal": "EMBO reports", "date": "2001", "authors": "Weide T, Bayer M, Koster M, Siebrasse JP, Peters R, Barnekow A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "11306556", "url": "https://glygen.org/publication/PubMed/11306556" } ] }, { "title": "Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Shorter J, Beard MB, Seemann J, Dirac-Svejstrup AB, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "11927603", "url": "https://glygen.org/publication/PubMed/11927603" } ] }, { "title": "Sequential SNARE disassembly and GATE-16-GOS-28 complex assembly mediated by distinct NSF activities drives Golgi membrane fusion.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Muller JM, Shorter J, Newman R, Deinhardt K, Sagiv Y, Elazar Z, Warren G, Shima DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "12070132", "url": "https://glygen.org/publication/PubMed/12070132" } ] }, { "title": "Sec16p potentiates the action of COPII proteins to bud transport vesicles.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Supek F, Madden DT, Hamamoto S, Orci L, Schekman R", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "12235121", "url": "https://glygen.org/publication/PubMed/12235121" } ] }, { "title": "Oligomeric state and stoichiometry of p24 proteins in the early secretory pathway.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Jenne N, Frey K, Brugger B, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "12237308", "url": "https://glygen.org/publication/PubMed/12237308" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Multiple binding proteins suggest diverse functions for the N-ethylmaleimide sensitive factor.", "journal": "Journal of structural biology", "date": "2004", "authors": "Whiteheart SW, Matveeva EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "15037235", "url": "https://glygen.org/publication/PubMed/15037235" } ] }, { "title": "Sugar-binding properties of VIP36, an intracellular animal lectin operating as a cargo receptor.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Kamiya Y, Yamaguchi Y, Takahashi N, Arata Y, Kasai K, Ihara Y, Matsuo I, Ito Y, Yamamoto K, Kato K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "16129679", "url": "https://glygen.org/publication/PubMed/16129679" } ] }, { "title": "Cysteine-disulfide cross-linking to monitor SNARE complex assembly during endoplasmic reticulum-Golgi transport.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Flanagan JJ, Barlowe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "16303754", "url": "https://glygen.org/publication/PubMed/16303754" } ] }, { "title": "On and off membrane dynamics of the endoplasmic reticulum-golgi tethering factor p115 in vivo.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Brandon E, Szul T, Alvarez C, Grabski R, Benjamin R, Kawai R, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "16624868", "url": "https://glygen.org/publication/PubMed/16624868" } ] }, { "title": "SNAREs--engines for membrane fusion.", "journal": "Nature reviews. Molecular cell biology", "date": "2006", "authors": "Jahn R, Scheller RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "16912714", "url": "https://glygen.org/publication/PubMed/16912714" } ] }, { "title": "Sec16 defines endoplasmic reticulum exit sites and is required for secretory cargo export in mammalian cells.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2006", "authors": "Watson P, Townley AK, Koka P, Palmer KJ, Stephens DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17005010", "url": "https://glygen.org/publication/PubMed/17005010" } ] }, { "title": "Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2006", "authors": "Nyfeler B, Zhang B, Ginsburg D, Kaufman RJ, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "17010120", "url": "https://glygen.org/publication/PubMed/17010120" } ] }, { "title": "SNARE status regulates tether recruitment and function in homotypic COPII vesicle fusion.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Bentley M, Liang Y, Mullen K, Xu D, Sztul E, Hay JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17038314", "url": "https://glygen.org/publication/PubMed/17038314" } ] }, { "title": "Two mammalian Sec16 homologues have nonredundant functions in endoplasmic reticulum (ER) export and transitional ER organization.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Bhattacharyya D, Glick BS", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17192411", "url": "https://glygen.org/publication/PubMed/17192411" } ] }, { "title": "TRAPPI tethers COPII vesicles by binding the coat subunit Sec23.", "journal": "Nature", "date": "2007", "authors": "Cai H, Yu S, Menon S, Cai Y, Lazarova D, Fu C, Reinisch K, Hay JC, Ferro-Novick S", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17287728", "url": "https://glygen.org/publication/PubMed/17287728" } ] }, { "title": "Mechanisms of COPII vesicle formation and protein sorting.", "journal": "FEBS letters", "date": "2007", "authors": "Sato K, Nakano A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17316621", "url": "https://glygen.org/publication/PubMed/17316621" } ] }, { "title": "The transport signal on Sec22 for packaging into COPII-coated vesicles is a conformational epitope.", "journal": "Molecular cell", "date": "2007", "authors": "Mancias JD, Goldberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "17499046", "url": "https://glygen.org/publication/PubMed/17499046" } ] }, { "title": "Specific Rab GTPase-activating proteins define the Shiga toxin and epidermal growth factor uptake pathways.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Fuchs E, Haas AK, Spooner RA, Yoshimura S, Lord JM, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17562788", "url": "https://glygen.org/publication/PubMed/17562788" } ] }, { "title": "Cornichon regulates transport and secretion of TGFalpha-related proteins in metazoan cells.", "journal": "Journal of cell science", "date": "2007", "authors": "Castro CP, Piscopo D, Nakagawa T, Derynck R", "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406" }, { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" }, { "database": "RefSeq", "id": "NP_005767", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005767" } ], "reference": [ { "type": "PubMed", "id": "17607000", "url": "https://glygen.org/publication/PubMed/17607000" } ] }, { "title": "Analysis of GTPase-activating proteins: Rab1 and Rab43 are key Rabs required to maintain a functional Golgi complex in human cells.", "journal": "Journal of cell science", "date": "2007", "authors": "Haas AK, Yoshimura S, Stephens DJ, Preisinger C, Fuchs E, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17684057", "url": "https://glygen.org/publication/PubMed/17684057" } ] }, { "title": "Molecular basis of sugar recognition by the human L-type lectins ERGIC-53, VIPL, and VIP36.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Kamiya Y, Kamiya D, Yamamoto K, Nyfeler B, Hauri HP, Kato K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "18025080", "url": "https://glygen.org/publication/PubMed/18025080" } ] }, { "title": "Identification of ERGIC-53 as an intracellular transport receptor of alpha1-antitrypsin.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Nyfeler B, Reiterer V, Wendeler MW, Stefan E, Zhang B, Michnick SW, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "18283111", "url": "https://glygen.org/publication/PubMed/18283111" } ] }, { "title": "The cargo receptors Surf4, endoplasmic reticulum-Golgi intermediate compartment (ERGIC)-53, and p25 are required to maintain the architecture of ERGIC and Golgi.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Mitrovic S, Ben-Tekaya H, Koegler E, Gruenberg J, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "18287528", "url": "https://glygen.org/publication/PubMed/18287528" } ] }, { "title": "Structural basis of cargo membrane protein discrimination by the human COPII coat machinery.", "journal": "The EMBO journal", "date": "2008", "authors": "Mancias JD, Goldberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "18843296", "url": "https://glygen.org/publication/PubMed/18843296" } ] }, { "title": "Membrane fusion: grappling with SNARE and SM proteins.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Sudhof TC, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "19164740", "url": "https://glygen.org/publication/PubMed/19164740" } ] }, { "title": "Functional proteomics identify cornichon proteins as auxiliary subunits of AMPA receptors.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Schwenk J, Harmel N, Zolles G, Bildl W, Kulik A, Heimrich B, Chisaka O, Jonas P, Schulte U, Fakler B, Klocker N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "19265014", "url": "https://glygen.org/publication/PubMed/19265014" } ] }, { "title": "TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites.", "journal": "Cell", "date": "2009", "authors": "Saito K, Chen M, Bard F, Chen S, Zhou H, Woodley D, Polischuk R, Schekman R, Malhotra V", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "19269366", "url": "https://glygen.org/publication/PubMed/19269366" } ] }, { "title": "The p24 family and selective transport processes at the ER-Golgi interface.", "journal": "Biology of the cell", "date": "2009", "authors": "Strating JR, Martens GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "19566487", "url": "https://glygen.org/publication/PubMed/19566487" } ] }, { "title": "Organisation of human ER-exit sites: requirements for the localisation of Sec16 to transitional ER.", "journal": "Journal of cell science", "date": "2009", "authors": "Hughes H, Budnik A, Schmidt K, Palmer KJ, Mantell J, Noakes C, Johnson A, Carter DA, Verkade P, Watson P, Stephens DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "19638414", "url": "https://glygen.org/publication/PubMed/19638414" } ] }, { "title": "mTrs130 is a component of a mammalian TRAPPII complex, a Rab1 GEF that binds to COPI-coated vesicles.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Yamasaki A, Menon S, Yu S, Barrowman J, Meerloo T, Oorschot V, Klumperman J, Satoh A, Ferro-Novick S", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "19656848", "url": "https://glygen.org/publication/PubMed/19656848" } ] }, { "title": "Selective export of human GPI-anchored proteins from the endoplasmic reticulum.", "journal": "Journal of cell science", "date": "2010", "authors": "Bonnon C, Wendeler MW, Paccaud JP, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "20427317", "url": "https://glygen.org/publication/PubMed/20427317" } ] }, { "title": "Role of the lectin VIP36 in post-ER quality control of human alpha1-antitrypsin.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2010", "authors": "Reiterer V, Nyfeler B, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "20477988", "url": "https://glygen.org/publication/PubMed/20477988" } ] }, { "title": "Protein sorting receptors in the early secretory pathway.", "journal": "Annual review of biochemistry", "date": "2010", "authors": "Dancourt J, Barlowe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "20533886", "url": "https://glygen.org/publication/PubMed/20533886" } ] }, { "title": "A targeted siRNA screen to identify SNAREs required for constitutive secretion in mammalian cells.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2010", "authors": "Gordon DE, Bond LM, Sahlender DA, Peden AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "20545907", "url": "https://glygen.org/publication/PubMed/20545907" } ] }, { "title": "p125A exists as part of the mammalian Sec13/Sec31 COPII subcomplex to facilitate ER-Golgi transport.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Ong YS, Tang BL, Loo LS, Hong W", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "20679433", "url": "https://glygen.org/publication/PubMed/20679433" } ] }, { "title": "Functional comparison of the effects of TARPs and cornichons on AMPA receptor trafficking and gating.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Shi Y, Suh YH, Milstein AD, Isozaki K, Schmid SM, Roche KW, Nicoll RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "20805473", "url": "https://glygen.org/publication/PubMed/20805473" } ] }, { "title": "TRAPP complexes in membrane traffic: convergence through a common Rab.", "journal": "Nature reviews. Molecular cell biology", "date": "2010", "authors": "Barrowman J, Bhandari D, Reinisch K, Ferro-Novick S", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "20966969", "url": "https://glygen.org/publication/PubMed/20966969" } ] }, { "title": "TFG-1 function in protein secretion and oncogenesis.", "journal": "Nature cell biology", "date": "2011", "authors": "Witte K, Schuh AL, Hegermann J, Sarkeshik A, Mayers JR, Schwarze K, Yates JR 3rd, Eimer S, Audhya A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "21478858", "url": "https://glygen.org/publication/PubMed/21478858" } ] }, { "title": "cTAGE5 mediates collagen secretion through interaction with TANGO1 at endoplasmic reticulum exit sites.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Saito K, Yamashiro K, Ichikawa Y, Erlmann P, Kontani K, Malhotra V, Katada T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "21525241", "url": "https://glygen.org/publication/PubMed/21525241" } ] }, { "title": "Sequential interactions with Sec23 control the direction of vesicle traffic.", "journal": "Nature", "date": "2011", "authors": "Lord C, Bhandari D, Menon S, Ghassemian M, Nycz D, Hay J, Ghosh P, Ferro-Novick S", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "21532587", "url": "https://glygen.org/publication/PubMed/21532587" } ] }, { "title": "Requirements for the catalytic cycle of the N-ethylmaleimide-Sensitive Factor (NSF).", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Zhao C, Smith EC, Whiteheart SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "21689688", "url": "https://glygen.org/publication/PubMed/21689688" } ] }, { "title": "Protein export at the ER: loading big collagens into COPII carriers.", "journal": "The EMBO journal", "date": "2011", "authors": "Malhotra V, Erlmann P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "21878990", "url": "https://glygen.org/publication/PubMed/21878990" } ] }, { "title": "COPII and COPI traffic at the ER-Golgi interface.", "journal": "Physiology (Bethesda, Md.)", "date": "2011", "authors": "Szul T, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "22013193", "url": "https://glygen.org/publication/PubMed/22013193" } ] }, { "title": "Sec24p and Sec16p cooperate to regulate the GTP cycle of the COPII coat.", "journal": "The EMBO journal", "date": "2012", "authors": "Kung LF, Pagant S, Futai E, D'Arcangelo JG, Buchanan R, Dittmar JC, Reid RJ, Rothstein R, Hamamoto S, Snapp EL, Schekman R, Miller EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "22157747", "url": "https://glygen.org/publication/PubMed/22157747" } ] }, { "title": "AMPA receptor modulation by cornichon-2 dictated by transmembrane AMPA receptor regulatory protein isoform.", "journal": "The European journal of neuroscience", "date": "2012", "authors": "Gill MB, Kato AS, Wang H, Bredt DS", "evidence": [ { "database": "RefSeq", "id": "NP_005767", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005767" } ], "reference": [ { "type": "PubMed", "id": "22211840", "url": "https://glygen.org/publication/PubMed/22211840" } ] }, { "title": "Insights into structural and regulatory roles of Sec16 in COPII vesicle formation at ER exit sites.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Yorimitsu T, Sato K", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "22675024", "url": "https://glygen.org/publication/PubMed/22675024" } ] }, { "title": "Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia.", "journal": "NeuroReport", "date": "2012", "authors": "Drummond JB, Simmons M, Haroutunian V, Meador-Woodruff JH", "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406" }, { "database": "RefSeq", "id": "NP_005767", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005767" } ], "reference": [ { "type": "PubMed", "id": "23103966", "url": "https://glygen.org/publication/PubMed/23103966" } ] }, { "title": "The highly conserved COPII coat complex sorts cargo from the endoplasmic reticulum and targets it to the golgi.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2013", "authors": "Lord C, Ferro-Novick S, Miller EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "23378591", "url": "https://glygen.org/publication/PubMed/23378591" } ] }, { "title": "Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nurnberg G, Altmuller J, Saxena R, Chapman ER, Dent EW, Nurnberg P, Audhya A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "23479643", "url": "https://glygen.org/publication/PubMed/23479643" } ] }, { "title": "Organization of the ER-Golgi interface for membrane traffic control.", "journal": "Nature reviews. Molecular cell biology", "date": "2013", "authors": "Brandizzi F, Barlowe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "23698585", "url": "https://glygen.org/publication/PubMed/23698585" } ] }, { "title": "Combined deficiency of coagulation factors V and VIII: an update.", "journal": "Seminars in thrombosis and hemostasis", "date": "2013", "authors": "Zheng C, Zhang B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "23852824", "url": "https://glygen.org/publication/PubMed/23852824" } ] }, { "title": "Sit4p/PP6 regulates ER-to-Golgi traffic by controlling the dephosphorylation of COPII coat subunits.", "journal": "Molecular biology of the cell", "date": "2013", "authors": "Bhandari D, Zhang J, Menon S, Lord C, Chen S, Helm JR, Thorsen K, Corbett KD, Hay JC, Ferro-Novick S", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "23864707", "url": "https://glygen.org/publication/PubMed/23864707" } ] }, { "title": "Tethering the assembly of SNARE complexes.", "journal": "Trends in cell biology", "date": "2014", "authors": "Hong W, Lev S", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "24119662", "url": "https://glygen.org/publication/PubMed/24119662" } ] }, { "title": "In sickness and in health: the role of TRAPP and associated proteins in disease.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2014", "authors": "Brunet S, Sacher M", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "24917561", "url": "https://glygen.org/publication/PubMed/24917561" } ] }, { "title": "Concentration of Sec12 at ER exit sites via interaction with cTAGE5 is required for collagen export.", "journal": "The Journal of cell biology", "date": "2014", "authors": "Saito K, Yamashiro K, Shimazu N, Tanabe T, Kontani K, Katada T", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "25202031", "url": "https://glygen.org/publication/PubMed/25202031" } ] }, { "title": "p115-SNARE interactions: a dynamic cycle of p115 binding monomeric SNARE motifs and releasing assembled bundles.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2015", "authors": "Wang T, Grabski R, Sztul E, Hay JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "25406594", "url": "https://glygen.org/publication/PubMed/25406594" } ] }, { "title": "Three alphaSNAP and 10 ATP molecules are used in SNARE complex disassembly by N-ethylmaleimide-sensitive factor (NSF).", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Shah N, Colbert KN, Enos MD, Herschlag D, Weis WI", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "25492864", "url": "https://glygen.org/publication/PubMed/25492864" } ] }, { "title": "TFG clusters COPII-coated transport carriers and promotes early secretory pathway organization.", "journal": "The EMBO journal", "date": "2015", "authors": "Johnson A, Bhattacharya N, Hanna M, Pennington JG, Schuh AL, Wang L, Otegui MS, Stagg SM, Audhya A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "25586378", "url": "https://glygen.org/publication/PubMed/25586378" } ] }, { "title": "SEC16 in COPII coat dynamics at ER exit sites.", "journal": "Biochemical Society transactions", "date": "2015", "authors": "Sprangers J, Rabouille C", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "25619252", "url": "https://glygen.org/publication/PubMed/25619252" } ] }, { "title": "Procollagen export from the endoplasmic reticulum.", "journal": "Biochemical Society transactions", "date": "2015", "authors": "Malhotra V, Erlmann P, Nogueira C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "25619253", "url": "https://glygen.org/publication/PubMed/25619253" } ] }, { "title": "A protein assembly-disassembly pathway in vitro that may correspond to sequential steps of synaptic vesicle docking, activation, and fusion.", "journal": "Cell", "date": "1993", "authors": "Sollner T, Bennett MK, Whiteheart SW, Scheller RH, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "8221884", "url": "https://glygen.org/publication/PubMed/8221884" } ] }, { "title": "Sec18p (NSF)-driven release of Sec17p (alpha-SNAP) can precede docking and fusion of yeast vacuoles.", "journal": "Cell", "date": "1996", "authors": "Mayer A, Wickner W, Haas A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "8620540", "url": "https://glygen.org/publication/PubMed/8620540" } ] }, { "title": "Mammalian Sly1 regulates syntaxin 5 function in endoplasmic reticulum to Golgi transport.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Dascher C, Balch WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "8663406", "url": "https://glygen.org/publication/PubMed/8663406" } ] }, { "title": "Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells.", "journal": "Cell", "date": "1997", "authors": "Hay JC, Chao DS, Kuo CS, Scheller RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9094723", "url": "https://glygen.org/publication/PubMed/9094723" } ] }, { "title": "The vesicle docking protein p115 binds GM130, a cis-Golgi matrix protein, in a mitotically regulated manner.", "journal": "Cell", "date": "1997", "authors": "Nakamura N, Lowe M, Levine TP, Rabouille C, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9150144", "url": "https://glygen.org/publication/PubMed/9150144" } ] }, { "title": "Assembly and disassembly of a ternary complex of synaptobrevin, syntaxin, and SNAP-25 in the membrane of synaptic vesicles.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Otto H, Hanson PI, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9177194", "url": "https://glygen.org/publication/PubMed/9177194" } ] }, { "title": "An isoform of the Golgi t-SNARE, syntaxin 5, with an endoplasmic reticulum retrieval signal.", "journal": "Molecular biology of the cell", "date": "1997", "authors": "Hui N, Nakamura N, Sonnichsen B, Shima DT, Nilsson T, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9307973", "url": "https://glygen.org/publication/PubMed/9307973" } ] }, { "title": "The recycling of ERGIC-53 in the early secretory pathway. ERGIC-53 carries a cytosolic endoplasmic reticulum-exit determinant interacting with COPII.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Kappeler F, Klopfenstein DR, Foguet M, Paccaud JP, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "9395526", "url": "https://glygen.org/publication/PubMed/9395526" } ] }, { "title": "gp25L/emp24/p24 protein family members of the cis-Golgi network bind both COP I and II coatomer.", "journal": "The Journal of cell biology", "date": "1998", "authors": "Dominguez M, Dejgaard K, Fullekrug J, Dahan S, Fazel A, Paccaud JP, Thomas DY, Bergeron JJ, Nilsson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "9472029", "url": "https://glygen.org/publication/PubMed/9472029" } ] }, { "title": "Localization, dynamics, and protein interactions reveal distinct roles for ER and Golgi SNAREs.", "journal": "The Journal of cell biology", "date": "1998", "authors": "Hay JC, Klumperman J, Oorschot V, Steegmaier M, Kuo CS, Scheller RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9647643", "url": "https://glygen.org/publication/PubMed/9647643" } ] } ], "pathway": [ { "id": "hsa:10175", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10175", "resource": "KEGG Pathway" }, { "id": "R-HSA-204005", "name": "COPII-mediated vesicle transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005", "resource": "Reactome", "description": "COPII-mediated vesicle transport" }, { "id": "R-HSA-5694530", "name": "Cargo concentration in the ER", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530", "resource": "Reactome", "description": "Cargo concentration in the ER" } ], "orthologs": [ { "uniprot_canonical_ac": "O35372-1", "protein_name": "Protein cornichon homolog 1", "gene_name": "Cnih1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAFTFAAFCYMLALLLTAALIFFAIWHIIAFDELKTDYKNPIDQCNTLNPLVLPEYLIHAFFCVMFLCAAEWLTLGLNMPLLAYHIWRYMSRPVMSGPGLYDPTTIMNADILAYCQKEGWCKLAFYLLAFFYYLYGMIYVLVSS", "length": 144 }, "evidence": [ { "id": "45924879", "url": "http://www.informatics.jax.org/homology/45924879", "database": "MGI" }, { "id": "O95406", "url": "https://omabrowser.org/oma/group/O95406/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P38312-1", "protein_name": "ER-derived vesicles protein ERV15", "gene_name": "ERV15", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSGTGLSLFVTGLILNCLNSICQIYFTILYGDLEADYINSIELCKRVNRLSVPEAILQAFISALFLFNGYWFVFLLNVPVLAYNASKVYKKTHLLDATDIFRKLGRCKIECFLKLGFYLLIFFFYFYRMVTALLENDANLIS", "length": 142 }, "evidence": [ { "id": "O95406", "url": "https://omabrowser.org/oma/group/O95406/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "P49858-1", "protein_name": "Protein cornichon", "gene_name": "cni", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MAFNFTAFTYIVALIGDAFLIFFAIFHVIAFDELKTDYKNPIDQCNSLNPLVLPEYLLHIFLNLLFLFCGEWFSLCINIPLIAYHIWRYKNRPVMSGPGLYDPTTVLKTDTLYRNMREGWIKLAVYLISFFYYIYGMVYSLIST", "length": 144 }, "evidence": [ { "id": "O95406", "url": "https://omabrowser.org/oma/group/O95406/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406" } ], "pmid": "" }, { "name": "ER to Golgi transport vesicle membrane", "id": "GO:0012507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012507", "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment membrane", "id": "GO:0033116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033116", "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O95406", "url": "https://www.uniprot.org/uniprot/O95406" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 83 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }