{ "uniprot_canonical_ac": "O43264-1", "uniprot_ac": "O43264", "uniprot_id": "ZW10_HUMAN", "mass": { "chemical_mass": 88829.0, "monoisotopic_mass": 88829.0 }, "refseq": { "ac": "NP_004715", "name": "centromere/kinetochore protein zw10 homolog", "summary": "This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004715" }, "gene_names": [ { "name": "ZW10", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43264", "id": "O43264" }, { "name": "HZW10; KNTC1AP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004715", "id": "NP_004715" }, { "name": "ZW10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004715", "id": "NP_004715" } ], "protein_names": [ { "name": "Centromere/kinetochore protein zw10 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43264" }, { "name": "centromere/kinetochore protein zw10 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004715", "id": "NP_004715" }, { "name": "zeste white 10 homolog; ZW10 homolog, centromere/kinetochore protein; ZW10, kinetochore associated, homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004715", "id": "NP_004715" } ], "function": [ { "annotation": "Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:11590237, PubMed:15485811, PubMed:15824131). Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the interphase NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:15029241).", "evidence": [ { "database": "UniProtKB", "id": "O43264", "url": "https://www.uniprot.org/uniprot/O43264#function" }, { "database": "PubMed", "id": "15094189", "url": "https://glygen.org/publication/PubMed/15094189" }, { "database": "PubMed", "id": "15824131", "url": "https://glygen.org/publication/PubMed/15824131" }, { "database": "PubMed", "id": "15029241", "url": "https://glygen.org/publication/PubMed/15029241" }, { "database": "PubMed", "id": "15485811", "url": "https://glygen.org/publication/PubMed/15485811" }, { "database": "PubMed", "id": "11590237", "url": "https://glygen.org/publication/PubMed/11590237" } ] }, { "annotation": "The RZZ complex was purified to homogeneity and subjected to systemic crystallization.", "evidence": [ { "database": "RefSeq", "id": "NP_004715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004715" }, { "database": "PubMed", "id": "25849506", "url": "https://glygen.org/publication/PubMed/25849506" } ] }, { "annotation": "This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_004715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004715" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1465986391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465986391" }, { "id": "rs1465986391", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465986391" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 195, "end_pos": 195, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "11", "chr_pos": "113758703", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372776052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372776052" }, { "id": "rs372776052", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372776052#frequency_tab" }, { "id": "rs372776052", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372776052" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 314, "end_pos": 314, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "11", "chr_pos": "113748406", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T314", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755558560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755558560" }, { "id": "rs755558560", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755558560" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 347, "end_pos": 347, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCL->NCS).", "chr_id": "11", "chr_pos": "113748306", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L347", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767993215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767993215" }, { "id": "rs767993215", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767993215" }, { "id": "rs767993215", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767993215" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 396, "end_pos": 396, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "11", "chr_pos": "113747616", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N396", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43264", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43264" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 434, "end_pos": 434, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "11", "chr_pos": "113744013", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P434", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs748169308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748169308" }, { "id": "rs748169308", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748169308" }, { "id": "rs748169308", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748169308#frequency_tab" }, { "id": "rs748169308", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748169308" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 545, "end_pos": 545, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNC->NNS).", "chr_id": "11", "chr_pos": "113739332", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C545", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746811678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746811678" }, { "id": "rs746811678", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746811678" }, { "id": "rs746811678", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746811678#frequency_tab" }, { "id": "rs746811678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746811678" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 546, "end_pos": 546, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCM->NCT).", "chr_id": "11", "chr_pos": "113739329", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M546", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43264", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43264" } ], "glycoeffect": [], "start_pos": 98, "end_pos": 98, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "chr_id": "11", "chr_pos": "113760865", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q98", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000086827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000086827" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "73.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000086827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000086827" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "69.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000086827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000086827" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "56.64", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000086827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000086827" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000086827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000086827" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000086827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000086827" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "56.1", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000086827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000086827" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000086827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000086827" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000086827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000086827" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "55.79", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000086827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000086827" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "79.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000086827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000086827" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "78.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000086827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000086827" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000086827", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000086827" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43264", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43264" } ], "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", 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"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 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"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, 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"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 - 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"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", 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"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": "down", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43264" } ], "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 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"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 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"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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43264", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43264" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43264", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43264" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43264", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43264" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43264", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43264" } ], "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": 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"Gene Annotation", "Organism-specific" ] }, { "id": "9183", "url": "https://www.ncbi.nlm.nih.gov/gene/9183", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "13194", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13194", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43264", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43264*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR009361", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009361", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR046362", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046362", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048343", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048343", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048344", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048344", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9183", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9183", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603954", "url": "http://www.omim.org/entry/603954", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43264", "url": "https://www.nextprot.org/entry/NX_O43264", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43264", "url": "https://oglcnac.org/atlas/detail/O43264", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O43264", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43264", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "TWPRMSE", "url": "https://omabrowser.org/oma/group/TWPRMSE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2786073at2759", "url": "http://www.orthodb.org/?query=2786073at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12205", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12205", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12205:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12205:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "7QPG", "url": "https://www.rcsb.org/structure/7QPG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF06248", "url": "http://pfam.xfam.org/family/PF06248", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF20665", "url": "http://pfam.xfam.org/family/PF20665", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF20666", "url": "http://pfam.xfam.org/family/PF20666", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43264", "url": "https://pharos.nih.gov/targets/O43264", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43264", "url": "http://purl.obolibrary.org/obo/PR_O43264", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-141430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-141430", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-141444", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-141444", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2467813", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2467813", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2500257", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2500257", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-68877", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68877", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9648025", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9648025", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004715", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "F5H3C1", "url": "https://www.uniprot.org/uniprot/F5H3C1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H3C1-1", "url": "https://www.uniprot.org/uniprot/F5H3C1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43264", "url": "https://www.uniprot.org/uniprot/O43264", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43264-1", "url": "https://www.uniprot.org/uniprot/O43264-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43264-2", "url": "https://www.uniprot.org/uniprot/O43264-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASFVTEVLAHSGRLEKEDLGTRISRLTRRVEEIKGEVCNMISKKYSEFLPSMQSAQGLITQVDKLSEDIDLLKSRIESEVRRDLHVSTGEFTDLKQQLERDSVVLSLLKQLQEFSTAIEEYNCALTEKKYVTGAQRLEEAQKCLKLLKSRKCFDLKILKSLSMELTIQKQNILYHLGEEWQKLIVWKFPPSKDTSSLESYLQTELHLYTEQSHKEEKTPMPPISSVLLAFSVLGELHSKLKSFGQMLLKYILRPLASCPSLHAVIESQPNIVIIRFESIMTNLEYPSPSEVFTKIRLVLEVLQKQLLDLPLDTDLENEKTSTVPLAEMLGDMIWEDLSECLIKNCLVYSIPTNSSKLQQYEEIIQSTEEFENALKEMRFLKGDTTDLLKYARNINSHFANKKCQDVIVAARNLMTSEIHNTVKIIPDSKINVPELPTPDEDNKLEVQKVSNTQYHEVMNLEPENTLDQHSFSLPTCRISESVKKLMELAYQTLLEATTSSDQCAVQLFYSVRNIFHLFHDVVPTYHKENLQKLPQLAAIHHNNCMYIAHHLLTLGHQFRLRLAPILCDGTATFVDLVPGFRRLGTECFLAQMRAQKGELLERLSSARNFSNMDDEENYSAASKAVRQVLHQLKRLGIVWQDVLPVNIYCKAMGTLLNTAISEVIGKITALEDISTEDGDRLYSLCKTVMDEGPQVFAPLSEESKNKKYQEEVPVYVPKWMPFKELMMMLQASLQEIGDRWADGKGPLAAAFSSSEVKALIRALFQNTERRAAALAKIK", "length": 779, "header": "sp|O43264-1|ZW10_HUMAN Isoform 1 of Centromere/kinetochore protein zw10 homolog OS=Homo sapiens OX=9606 GN=ZW10 PE=1 SV=3 CANONICAL=O43264-1" }, "isoforms": [ { "isoform_ac": "F5H3C1-1", "url": "", "sequence": { "sequence": "MASFVTEVLAHSGRLEKEDLGTRISRLTRRVEEIKGEVCNMISKKYSEFLPSMQSAQGLITQVDKLSEDIDLLKSRIESEIPAVWNLTYKLNFIYTLNNRTKRRRPLCHPSVLSSWHFLFLENYTASLNHLVRCC", "length": 135, "header": "tr|F5H3C1-1|F5H3C1_HUMAN Computationally mapped isoform of Zw10 kinetochore protein OS=Homo sapiens OX=9606 GN=ZW10 PE=1 SV=1 CANONICAL=O43264-1" }, "locus": { "chromosome": "11", "start_pos": 113773666, "end_pos": 113757842, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538209.1", "url": "https://www.ensembl.org/id/ENST00000538209.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000439197.1", "url": "https://www.ensembl.org/id/ENSP00000439197.1" } ] } }, { "isoform_ac": "O43264-1", "url": "", "sequence": { "sequence": "MASFVTEVLAHSGRLEKEDLGTRISRLTRRVEEIKGEVCNMISKKYSEFLPSMQSAQGLITQVDKLSEDIDLLKSRIESEVRRDLHVSTGEFTDLKQQLERDSVVLSLLKQLQEFSTAIEEYNCALTEKKYVTGAQRLEEAQKCLKLLKSRKCFDLKILKSLSMELTIQKQNILYHLGEEWQKLIVWKFPPSKDTSSLESYLQTELHLYTEQSHKEEKTPMPPISSVLLAFSVLGELHSKLKSFGQMLLKYILRPLASCPSLHAVIESQPNIVIIRFESIMTNLEYPSPSEVFTKIRLVLEVLQKQLLDLPLDTDLENEKTSTVPLAEMLGDMIWEDLSECLIKNCLVYSIPTNSSKLQQYEEIIQSTEEFENALKEMRFLKGDTTDLLKYARNINSHFANKKCQDVIVAARNLMTSEIHNTVKIIPDSKINVPELPTPDEDNKLEVQKVSNTQYHEVMNLEPENTLDQHSFSLPTCRISESVKKLMELAYQTLLEATTSSDQCAVQLFYSVRNIFHLFHDVVPTYHKENLQKLPQLAAIHHNNCMYIAHHLLTLGHQFRLRLAPILCDGTATFVDLVPGFRRLGTECFLAQMRAQKGELLERLSSARNFSNMDDEENYSAASKAVRQVLHQLKRLGIVWQDVLPVNIYCKAMGTLLNTAISEVIGKITALEDISTEDGDRLYSLCKTVMDEGPQVFAPLSEESKNKKYQEEVPVYVPKWMPFKELMMMLQASLQEIGDRWADGKGPLAAAFSSSEVKALIRALFQNTERRAAALAKIK", "length": 779, "header": "sp|O43264-1|ZW10_HUMAN Isoform 1 of Centromere/kinetochore protein zw10 homolog OS=Homo sapiens OX=9606 GN=ZW10 PE=1 SV=3 CANONICAL=O43264-1" }, "locus": { "chromosome": "11", "start_pos": 113773666, "end_pos": 113733697, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000200135.8", "url": "https://www.ensembl.org/id/ENST00000200135.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000200135.3", "url": "https://www.ensembl.org/id/ENSP00000200135.3" } ] } }, { "isoform_ac": "O43264-2", "url": "", "sequence": { "sequence": "MASFVTEVLAHSGRLEKEDLGTRISRLTRRVEEIKGEVCNMISKKYSEFLPSMQSAQGLITQVDKLSEDIDLLKSRIESEVRRDLHVSTGEFTDLKQQLERDSVVLSLLKQLQEFSTAIEEYNCALTEKKYVTGAQRLEEAQKCLKLLKSRKCFDLKILKSLSMELTIQKQNILYHLGEEWQKLIVWKFPPSKDTSSLESYLQTELHLYTEQSHKEEKTPMPPISSVLLAFSVLGELHSKLKSFGQMLLKYILRPLASCPSLHAVIESQPNIVIIRFESIMTNLEYPSPSEVFTKIRLVLEVLQKQLLDLPLDTDLENEKTSTVPLAEMLGDMIWEDLSECLIKNCLVYSIPTNSSKLQQYEEIIQSTEEFENALKEMRFLKGDTTDLLKYARNINSHFANKKCQDVIVAARNLMTSEIHNTVKIIPDSKINVPELPTPDEDNKLEVQKVSNTQYHEVMNLEPENTLDQHSFSLPTCRISESVKKLMELAYQTLLEATTSSDQCAVQLFYSVRNIFHLFHDVVPTYHKENLQKLPQLAAIHHNNCMYIAHHLLTLGHQFRLRLAPILCDGTATFVDLVPGFRRLGTECFLAQMRAQKGELLERLSSARNFSNMDDEENYSAASKAVRQVLHQLKRLGIVWQDVLPVNIYCKAMGTLLNTAISEVIGKITALE", "length": 672, "header": "sp|O43264-2|ZW10_HUMAN Isoform 2 of Centromere/kinetochore protein zw10 homolog OS=Homo sapiens OX=9606 GN=ZW10 PE=1 SV=3 CANONICAL=O43264-1" }, "locus": { "chromosome": "11", "start_pos": 113773666, "end_pos": 113737572, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535142.5", "url": "https://www.ensembl.org/id/ENST00000535142.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440879.1", "url": "https://www.ensembl.org/id/ENSP00000440879.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 314, "start_aa": "Thr", "end_pos": 314, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr314", "evidence": [ { "id": "O43264", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43264" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "O43264", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43264" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 314, "start_aa": "Thr", "end_pos": 314, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr314", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] } ], "phosphorylation": [ { "start_pos": 12, "end_pos": 12, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43264", "url": "https://www.uniprot.org/uniprot/O43264" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43264", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43264" } ], "site_lbl": "Ser12" }, { "start_pos": 133, "end_pos": 133, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43264", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43264" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr133" }, { "start_pos": 386, "end_pos": 386, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43264", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43264" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Thr386" }, { "start_pos": 3, "end_pos": 3, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43264", "url": "https://www.uniprot.org/uniprot/O43264" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43264", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43264" } ], "site_lbl": "Ser3" }, { "start_pos": 438, "end_pos": 438, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43264", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43264" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O43264", "url": "http://phospho.elm.eu.org/byAccession/O43264.html" } ], "site_lbl": "Thr438" }, { "start_pos": 662, "end_pos": 662, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43264", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43264" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser662" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Coupling of coat assembly and vesicle budding to packaging of putative cargo receptors.", "journal": "Cell", "date": "1999", "authors": "Bremser M, Nickel W, Schweikert M, Ravazzola M, Amherdt M, Hughes CA, Sollner TH, Rothman JE, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10052452", "url": "https://glygen.org/publication/PubMed/10052452" } ] }, { "title": "GTP-dependent binding of ADP-ribosylation factor to coatomer in close proximity to the binding site for dilysine retrieval motifs and p23.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Zhao L, Helms JB, Brunner J, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10318838", "url": "https://glygen.org/publication/PubMed/10318838" } ] }, { "title": "Identification of a vertebrate sister-chromatid separation inhibitor involved in transformation and tumorigenesis.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Zou H, McGarry TJ, Bernal T, Kirschner MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2467813", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2467813" } ], "reference": [ { "type": "PubMed", "id": "10411507", "url": "https://glygen.org/publication/PubMed/10411507" } ] }, { "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-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10445031", "url": "https://glygen.org/publication/PubMed/10445031" } ] }, { "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-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10559959", "url": "https://glygen.org/publication/PubMed/10559959" } ] }, { "title": "X-ray structure determination of human profilin II: A comparative structural analysis of human profilins.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Nodelman IM, Bowman GD, Lindberg U, Schutt CE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "10600384", "url": "https://glygen.org/publication/PubMed/10600384" } ] }, { "title": "Diaphanous-related formins bridge Rho GTPase and Src tyrosine kinase signaling.", "journal": "Molecular cell", "date": "2000", "authors": "Tominaga T, Sahai E, Chardin P, McCormick F, Courtneidge SA, Alberts AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "10678165", "url": "https://glygen.org/publication/PubMed/10678165" } ] }, { "title": "Decoding of sorting signals by coatomer through a GTPase switch in the COPI coat complex.", "journal": "Cell", "date": "2000", "authors": "Goldberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": "PubMed", "id": "10761932", "url": "https://glygen.org/publication/PubMed/10761932" } ] }, { "title": "COP I domains required for coatomer integrity, and novel interactions with ARF and ARF-GAP.", "journal": "The EMBO journal", "date": "2000", "authors": "Eugster A, Frigerio G, Dale M, Duden R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811434", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434" } ], "reference": [ { "type": 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