{ "uniprot_canonical_ac": "O43929-1", "uniprot_ac": "O43929", "uniprot_id": "ORC4_HUMAN", "mass": { "chemical_mass": 50377.0, "monoisotopic_mass": 50377.0 }, "refseq": { "ac": "NP_001177808", "name": "origin recognition complex subunit 4 isoform 1", "summary": "The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177808" }, "gene_names": [ { "name": "ORC4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43929", "id": "O43929" }, { "name": "ORC4L; ORC4P", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177808", "id": "NP_001177808" }, { "name": "ORC4L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43929", "id": "O43929" }, { "name": "ORC4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177808", "id": "NP_001177808" } ], "protein_names": [ { "name": "Origin recognition complex subunit 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43929" }, { "name": "origin recognition complex subunit 4 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177808", "id": "NP_001177808" }, { "name": "origin recognition complex, subunit 4 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177808", "id": "NP_001177808" } ], "function": [ { "annotation": "Biochemical characterization of the mouse homolog", "evidence": [ { "database": "RefSeq", "id": "NP_001177808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177808" }, { "database": "PubMed", "id": "10460412", "url": "https://glygen.org/publication/PubMed/10460412" } ] }, { "annotation": "Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3.", "evidence": [ { "database": "UniProtKB", "id": "O43929", "url": "https://www.uniprot.org/uniprot/O43929#function" }, { "database": "PubMed", "id": "22427655", "url": "https://glygen.org/publication/PubMed/22427655" } ] }, { "annotation": "HsOrc4 could have a fundamental function in the process of initiation of replication by remodeling the structure of origin of replication using the energy of supercoiled DNA.", "evidence": [ { "database": "RefSeq", "id": "NP_001177808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177808" }, { "database": "PubMed", "id": "26124052", "url": "https://glygen.org/publication/PubMed/26124052" } ] }, { "annotation": "Since the site of one of the missense mutations in the human ORC4 alleles is conserved between humans and yeast, we sought to determine in what way this single amino acid change affects the process of chromosome replication, by introducing the comparable mutation into yeast (orc4Y232C). Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001177808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177808" }, { "database": "PubMed", "id": "29036220", "url": "https://glygen.org/publication/PubMed/29036220" } ] }, { "annotation": "The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001177808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177808" } ] } ], "disease": [ { "disease_id": "DOID:0080513", "recommended_name": { "id": "DOID:0080513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080513", "name": "Meier-Gorlin syndrome 2", "description": "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23." }, "synonyms": [ { "id": "MONDO:0013428", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013428", "name": "Meier-Gorlin syndrome 2", "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene." }, { "id": "MONDO:0013428", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013428", "name": "Meier-Gorlin syndrome 2", "description": "" }, { "id": "MONDO:0013428", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013428", "name": "Meier-Gorlin syndrome caused by mutation in ORC4", "description": "" }, { "id": "MONDO:0013428", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013428", "name": "Meier-Gorlin syndrome type 2", "description": "" }, { "id": "MONDO:0013428", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013428", "name": "ORC4 Meier-Gorlin syndrome", "description": "" }, { "id": "MONDO:0013428", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013428", "name": "MGORS2", "description": "" }, { "id": "MONDO:0013428", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013428", "name": "Meier-GORLIN syndrome 2", "description": "" }, { "id": "MIM:613800", "resource": "MIM", "url": "https://www.omim.org/entry/613800", "name": "Meier-Gorlin syndrome 2", "description": "Meier-Gorlin syndrome 2" } ], "evidence": [ { "id": "613800", "database": "MIM", "url": "https://www.omim.org/entry/613800" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 159, "end_pos": 160, "sequence_org": "DE", "sequence_mut": "AA", "comment": "Impairs ORC complex formation.", "evidence": [ { "database": "UniProtKB", "id": "O43929", "url": "https://www.uniprot.org/uniprot/O43929" }, { "database": "PubMed", "id": "17716973", "url": "https://glygen.org/publication/PubMed/17716973" } ] }, { "start_pos": 73, "end_pos": 73, "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs ORC complex formation.", "evidence": [ { "database": "UniProtKB", "id": "O43929", "url": "https://www.uniprot.org/uniprot/O43929" }, { "database": "PubMed", "id": "17716973", "url": "https://glygen.org/publication/PubMed/17716973" } ] }, { "start_pos": 73, "end_pos": 73, "sequence_org": "K", "sequence_mut": "E", "comment": "Impairs ORC complex formation.", "evidence": [ { "database": "UniProtKB", "id": "O43929", "url": "https://www.uniprot.org/uniprot/O43929" }, { "database": "PubMed", "id": "17716973", "url": "https://glygen.org/publication/PubMed/17716973" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115947", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115947" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "85.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115947", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115947" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115947", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115947" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "76.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000115947", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115947" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115947", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115947" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115947", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115947" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "79.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000115947", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115947" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115947", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115947" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115947", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115947" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "82.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115947", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115947" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115947", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115947" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115947", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115947" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000115947", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000115947" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43929", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43929" } ], "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 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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, 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43929", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43929" } ], "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": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43929", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43929" } ], "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": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43929", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43929" } ], "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. 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"" }, { "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43929", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43929" } ], "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 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43929", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43929" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43929" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"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": "O43929", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43929" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", 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"isoform_ac": "Q53SE3-1", "url": "", "sequence": { "sequence": "MSSRKSKSNSLIHTECLSQVQRILRERFCRQSPHSNLFGVQVQYKHLSELLKRTALHGESNSVLIIGPRGSGKTMLINHALKELMEIEEVSENVLQVHLNGLLQINDKIALKEITRQLNLENVVGDKVFGSFAENLSFLLEALKK", "length": 145, "header": "tr|Q53SE3-1|ORC4_HUMAN Computationally mapped isoform of Origin recognition complex subunit 4 OS=Homo sapiens OX=9606 GN=ORC4 PE=1 SV=1 CANONICAL=O43929-1" }, "locus": { "chromosome": "2", "start_pos": 147975958, "end_pos": 147955348, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416719.5", "url": "https://www.ensembl.org/id/ENST00000416719.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000413939.1", "url": "https://www.ensembl.org/id/ENSP00000413939.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 35, "end_pos": 35, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43929", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43929" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser35" }, { "start_pos": 8, "end_pos": 8, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43929", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43929" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser8" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Nuclear foci of mammalian recombination proteins are located at single-stranded DNA regions formed after DNA damage.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Raderschall E, Golub EI, Haaf T", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "10051570", "url": "https://glygen.org/publication/PubMed/10051570" } ] }, { "title": "Analysis of DNA replication forks encountering a pyrimidine dimer in the template to the leading strand.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Cordeiro-Stone M, Makhov AM, Zaritskaya LS, Griffith JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "10373362", "url": "https://glygen.org/publication/PubMed/10373362" } ] }, { "title": "A novel growth- and cell cycle-regulated protein, ASK, activates human Cdc7-related kinase and is essential for G1/S transition in mammalian cells.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Kumagai H, Sato N, Yamada M, Mahony D, Seghezzi W, Lees E, Arai K, Masai H", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "10373557", "url": "https://glygen.org/publication/PubMed/10373557" } ] }, { "title": "Identification and characterization of MmORC4 and MmORC5, two subunits of the mouse origin of replication recognition complex.", "journal": "Chromosoma", "date": "1999", "authors": "Springer J, Kneissl M, Putter V, Grummt F", "evidence": [ { "database": "RefSeq", "id": "NP_001177808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177808" } ], "reference": [ { "type": "PubMed", "id": "10460412", "url": "https://glygen.org/publication/PubMed/10460412" } ] }, { "title": "Human CDC45 protein binds to minichromosome maintenance 7 protein and the p70 subunit of DNA polymerase alpha.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Kukimoto I, Igaki H, Kanda T", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "10518787", "url": "https://glygen.org/publication/PubMed/10518787" } ] }, { "title": "Mammalian Cdc7-Dbf4 protein kinase complex is essential for initiation of DNA replication.", "journal": "The EMBO journal", "date": "1999", "authors": "Jiang W, McDonald D, Hope TJ, Hunter T", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "10523313", "url": "https://glygen.org/publication/PubMed/10523313" } ] }, { "title": "Assembly of a complex containing Cdc45p, replication protein A, and Mcm2p at replication origins controlled by S-phase cyclin-dependent kinases and Cdc7p-Dbf4p kinase.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Zou L, Stillman B", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "10757793", "url": "https://glygen.org/publication/PubMed/10757793" } ] }, { "title": "Physical interactions among human checkpoint control proteins HUS1p, RAD1p, and RAD9p, and implications for the regulation of cell cycle progression.", "journal": "Genomics", "date": "2000", "authors": "Hang H, Lieberman HB", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "10777662", "url": "https://glygen.org/publication/PubMed/10777662" } ] }, { "title": "Human Cdc7-related kinase complex. In vitro phosphorylation of MCM by concerted actions of Cdks and Cdc7 and that of a criticial threonine residue of Cdc7 bY Cdks.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Masai H, Matsui E, You Z, Ishimi Y, Tamai K, Arai K", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "10846177", "url": "https://glygen.org/publication/PubMed/10846177" } ] }, { "title": "Chk1 is an essential kinase that is regulated by Atr and required for the G(2)/M DNA damage checkpoint.", "journal": "Genes & development", "date": "2000", "authors": "Liu Q, Guntuku S, Cui XS, Matsuoka S, Cortez D, Tamai K, Luo G, Carattini-Rivera S, DeMayo F, Bradley A, Donehower LA, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "10859164", "url": "https://glygen.org/publication/PubMed/10859164" } ] }, { "title": "Initiation of eukaryotic DNA replication: origin unwinding and sequential chromatin association of Cdc45, RPA, and DNA polymerase alpha.", "journal": "Molecular cell", "date": "2000", "authors": "Walter J, Newport J", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "10882098", "url": "https://glygen.org/publication/PubMed/10882098" } ] }, { "title": "Electron microscopic observation and single-stranded DNA binding activity of the Mcm4,6,7 complex.", "journal": "Journal of molecular biology", "date": "2000", "authors": "Sato M, Gotow T, You Z, Komamura-Kohno Y, Uchiyama Y, Yabuta N, Nojima H, Ishimi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-68867", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68867" } ], "reference": [ { "type": "PubMed", "id": "10884341", "url": "https://glygen.org/publication/PubMed/10884341" } ] }, { "title": "The human homolog of Saccharomyces cerevisiae Mcm10 interacts with replication factors and dissociates from nuclease-resistant nuclear structures in G(2) phase.", "journal": "Nucleic acids research", "date": "2000", "authors": "Izumi M, Yanagi K, Mizuno T, Yokoi M, Kawasaki Y, Moon KY, Hurwitz J, Yatagai F, Hanaoka F", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "11095689", "url": "https://glygen.org/publication/PubMed/11095689" } ] }, { "title": "Inhibition of eukaryotic DNA replication by geminin binding to Cdt1.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Wohlschlegel JA, Dwyer BT, Dhar SK, Cvetic C, Walter JC, Dutta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "11125146", "url": "https://glygen.org/publication/PubMed/11125146" } ] }, { "title": "Identification of two residues in MCM5 critical for the assembly of MCM complexes and Stat1-mediated transcription activation in response to IFN-gamma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "DaFonseca CJ, Shu F, Zhang JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-68867", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68867" } ], "reference": [ { "type": "PubMed", "id": "11248027", "url": "https://glygen.org/publication/PubMed/11248027" } ] }, { "title": "ATR-mediated checkpoint pathways regulate phosphorylation and activation of human Chk1.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Zhao H, Piwnica-Worms H", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "11390642", "url": "https://glygen.org/publication/PubMed/11390642" } ] }, { "title": "Substrate recognition by the Cdc20 and Cdh1 components of the anaphase-promoting complex.", "journal": "Genes & development", "date": "2001", "authors": "Pfleger CM, Lee E, Kirschner MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-68867", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68867" } ], "reference": [ { "type": "PubMed", "id": "11562349", "url": "https://glygen.org/publication/PubMed/11562349" } ] }, { "title": "Mammalian Orc1 protein is selectively released from chromatin and ubiquitinated during the S-to-M transition in the cell division cycle.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Li CJ, DePamphilis ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-68949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68949" } ], "reference": [ { "type": "PubMed", "id": "11739726", "url": "https://glygen.org/publication/PubMed/11739726" } ] }, { "title": "Human origin recognition complex large subunit is degraded by ubiquitin-mediated proteolysis after initiation of DNA replication.", "journal": "Molecular cell", "date": "2002", "authors": "Mendez J, Zou-Yang XH, Kim SY, Hidaka M, Tansey WP, Stillman B", "evidence": [ { "database": "Reactome", "id": "R-HSA-68949", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68949" } ], "reference": [ { "type": "PubMed", "id": "11931757", "url": "https://glygen.org/publication/PubMed/11931757" } ] }, { "title": "DNA replication in eukaryotic cells.", "journal": "Annual review of biochemistry", "date": "2002", "authors": "Bell SP, Dutta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "12045100", "url": "https://glygen.org/publication/PubMed/12045100" } ] }, { "title": "Disruption of the checkpoint kinase 1/cell division cycle 25A pathway abrogates ionizing radiation-induced S and G2 checkpoints.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Zhao H, Watkins JL, Piwnica-Worms H", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "12399544", "url": "https://glygen.org/publication/PubMed/12399544" } ] }, { "title": "Loading of the human 9-1-1 checkpoint complex onto DNA by the checkpoint clamp loader hRad17-replication factor C complex in vitro.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Bermudez VP, Lindsey-Boltz LA, Cesare AJ, Maniwa Y, Griffith JD, Hurwitz J, Sancar A", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "12578958", "url": "https://glygen.org/publication/PubMed/12578958" } ] }, { "title": "Sensing DNA damage through ATRIP recognition of RPA-ssDNA complexes.", "journal": "Science (New York, N.Y.)", "date": "2003", "authors": "Zou L, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "12791985", "url": "https://glygen.org/publication/PubMed/12791985" } ] }, { "title": "The ORC1 cycle in human cells: II. Dynamic changes in the human ORC complex during the cell cycle.", "journal": "J. Biol. 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