{ "uniprot_canonical_ac": "O43542-1", "uniprot_ac": "O43542", "uniprot_id": "XRCC3_HUMAN", "mass": { "chemical_mass": 37850.0, "monoisotopic_mass": 37850.0 }, "refseq": { "ac": "NP_001093588", "name": "DNA repair protein XRCC3", "summary": "This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588" }, "gene_names": [ { "name": "XRCC3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43542", "id": "O43542" }, { "name": "CMM6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588", "id": "NP_001093588" }, { "name": "XRCC3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588", "id": "NP_001093588" } ], "protein_names": [ { "name": "DNA repair protein XRCC3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43542" }, { "name": "DNA repair protein XRCC3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588", "id": "NP_001093588" }, { "name": "X-ray repair cross-complementing protein 3; X-ray repair complementing defective repair in Chinese hamster cells 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588", "id": "NP_001093588" }, { "name": "X-ray repair cross-complementing protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43542" } ], "function": [ { "annotation": "Association between XRCC3 p.Thr241Met polymorphism and risk of glioma: A systematic review and meta-analysis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001093588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588" }, { "database": "PubMed", "id": "36264998", "url": "https://glygen.org/publication/PubMed/36264998" } ] }, { "annotation": "Association of RAD51, XRCC1, XRCC2, and XRCC3 Polymorphisms with Risk of Breast Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001093588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588" }, { "database": "PubMed", "id": "37522793", "url": "https://glygen.org/publication/PubMed/37522793" } ] }, { "annotation": "Impact of Interaction between Single Nucleotide Polymorphism of XRCC1, XRCC2, XRCC3 with Tumor Suppressor Tp53 Gene Increases Risk of Breast Cancer: A Hospital Based Case-Control Study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001093588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588" }, { "database": "PubMed", "id": "37774058", "url": "https://glygen.org/publication/PubMed/37774058" } ] }, { "annotation": "Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD51 paralog protein complex CX3 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks. Involved in HJ resolution and thus in processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex and seems to involve GEN1 during mitotic cell cycle progression. Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C.", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542#function" }, { "database": "PubMed", "id": "23108668", "url": "https://glygen.org/publication/PubMed/23108668" }, { "database": "PubMed", "id": "14716019", "url": "https://glygen.org/publication/PubMed/14716019" }, { "database": "PubMed", "id": "23149936", "url": "https://glygen.org/publication/PubMed/23149936" }, { "database": "PubMed", "id": "20413593", "url": "https://glygen.org/publication/PubMed/20413593" } ] }, { "annotation": "Systematic evaluation of the association between a missense variant in XRCC3 gene splicing site and the pathogenesis of ovarian cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001093588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588" }, { "database": "PubMed", "id": "37212185", "url": "https://glygen.org/publication/PubMed/37212185" } ] }, { "annotation": "This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001093588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588" } ] }, { "annotation": "XRCC3 and NBS1 gene polymorphisms modulate the risk of pre-oral cancer and oral cancer in the North Indian population.", "evidence": [ { "database": "RefSeq", "id": "NP_001093588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588" }, { "database": "PubMed", "id": "37006067", "url": "https://glygen.org/publication/PubMed/37006067" } ] } ], "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" } ], "evidence": [ { "id": "114480", "database": "MIM", "url": "https://www.omim.org/entry/114480" } ] }, { "disease_id": "MONDO:0013510", "recommended_name": { "id": "MONDO:0013510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013510", "name": "melanoma, cutaneous malignant, susceptibility to, 6", "description": "" }, "synonyms": [ { "id": "MONDO:0013510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013510", "name": "melanoma, cutaneous malignant, 6", "description": "" }, { "id": "MONDO:0013510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013510", "name": "melanoma, cutaneous malignant, susceptibility to, 6", "description": "" }, { "id": "MONDO:0013510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013510", "name": "melanoma, cutaneous malignant, susceptibility to, type 6", "description": "" }, { "id": "MONDO:0013510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013510", "name": "CMM6", "description": "" }, { "id": "MONDO:0013510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013510", "name": "susceptibility to cutaneous malignant melanoma 6", "description": "" }, { "id": "MIM:613972", "resource": "MIM", "url": "https://www.omim.org/entry/613972", "name": "Melanoma, cutaneous malignant 6", "description": "Melanoma, cutaneous malignant 6" } ], "evidence": [ { "id": "613972", "database": "MIM", "url": "https://www.omim.org/entry/613972" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "65.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "55.69", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "71.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "66.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "58.26", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "58.65", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "71.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43542", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43542" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43542", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43542" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43542", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43542" } ], "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": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43542", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43542" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43542", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43542" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43542", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43542" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43542", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43542" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43542", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43542" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43542", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43542" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43542", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43542" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O43542", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43542" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O43542", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43542" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "common_name": "Human" } ], "gene": [ { "name": "XRCC3", "url": "https://www.uniprot.org/uniprot/O43542", "locus": { "chromosome": "14", "start_pos": 103697609, "end_pos": 103715504, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000126215", "url": "https://www.ensembl.org/id/ENSG00000126215" } ] } } ], "crossref": [ { "id": "ENSG00000126215", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126215", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd19491", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19491", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "XRCC3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=XRCC3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "12830", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12830", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43542", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43542*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR013632", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013632", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016467", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016467", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020588", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020588", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047348", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047348", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7517", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7517", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "114480", "url": "http://www.omim.org/entry/114480", "database": "MIM", "categories": [ "Other" ] }, { "id": "600675", "url": "http://www.omim.org/entry/600675", "database": "MIM", "categories": [ "Other" ] }, { "id": "613972", "url": "http://www.omim.org/entry/613972", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43542", "url": "https://www.nextprot.org/entry/NX_O43542", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "PCLGLQW", "url": "https://omabrowser.org/oma/group/PCLGLQW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3177495at2759", "url": "http://www.orthodb.org/?query=3177495at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46487", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46487", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46487:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46487:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF08423", "url": "http://pfam.xfam.org/family/PF08423", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43542", "url": "https://pharos.nih.gov/targets/O43542", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43542", "url": "http://purl.obolibrary.org/obo/PR_O43542", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5693537", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693537", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5693554", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693554", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001093588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "G3V2L7", "url": "https://www.uniprot.org/uniprot/G3V2L7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2L7-1", "url": "https://www.uniprot.org/uniprot/G3V2L7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2P3", "url": "https://www.uniprot.org/uniprot/G3V2P3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2P3-1", "url": "https://www.uniprot.org/uniprot/G3V2P3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V399", "url": "https://www.uniprot.org/uniprot/G3V399", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V399-1", "url": "https://www.uniprot.org/uniprot/G3V399-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3C8", "url": "https://www.uniprot.org/uniprot/G3V3C8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3C8-1", "url": "https://www.uniprot.org/uniprot/G3V3C8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3H9", "url": "https://www.uniprot.org/uniprot/G3V3H9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3H9-1", "url": "https://www.uniprot.org/uniprot/G3V3H9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3Q2", "url": "https://www.uniprot.org/uniprot/G3V3Q2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3Q2-1", "url": "https://www.uniprot.org/uniprot/G3V3Q2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V5K0", "url": "https://www.uniprot.org/uniprot/G3V5K0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V5K0-1", "url": "https://www.uniprot.org/uniprot/G3V5K0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43542-1", "url": "https://www.uniprot.org/uniprot/O43542-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDLDLLDLNPRIIAAIKKAKLKSVKEVLHFSGPDLKRLTNLSSPEVWHLLRTASLHLRGSSILTALQLHQQKERFPTQHQRLSLGCPVLDALLRGGLPLDGITELAGRSSAGKTQLALQLCLAVQFPRQHGGLEAGAVYICTEDAFPHKRLQQLMAQQPRLRTDVPGELLQKLRFGSQIFIEHVADVDTLLECVNKKVPVLLSRGMARLVVIDSVAAPFRCEFDSQASAPRARHLQSLGATLRELSSAFQSPVLCINQVTEAMEEQGAAHGPLGFWDERVSPALGITWANQLLVRLLADRLREEEAALGCPARTLRVLSAPHLPPSSCSYTISAEGVRGTPGTQSH", "length": 346, "header": "sp|O43542-1|XRCC3_HUMAN Isoform 1 of DNA repair protein XRCC3 OS=Homo sapiens OX=9606 GN=XRCC3 PE=1 SV=1 CANONICAL=O43542-1" }, "isoforms": [ { "isoform_ac": "G3V2L7-1", "url": "", "sequence": { "sequence": "MDLDLLDLNPRIIAAIKKAKLKSVKEVLHFSGPDLKRLTNLSSPE", "length": 45, "header": "tr|G3V2L7-1|G3V2L7_HUMAN Computationally mapped isoform of X-ray repair cross complementing 3 OS=Homo sapiens OX=9606 GN=XRCC3 PE=1 SV=1 CANONICAL=O43542-1" }, "locus": { "chromosome": "14", "start_pos": 103711087, "end_pos": 103708580, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554170.1", "url": "https://www.ensembl.org/id/ENST00000554170.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000450738.1", "url": "https://www.ensembl.org/id/ENSP00000450738.1" } ] } }, { "isoform_ac": "G3V2P3-1", "url": "", "sequence": { "sequence": "MDLDLLDLNPRIIAAIKKAKLKSVKEVLHFSGPDLKRLTNLSSPEVW", "length": 47, "header": "tr|G3V2P3-1|G3V2P3_HUMAN Computationally mapped isoform of X-ray repair cross complementing 3 OS=Homo sapiens OX=9606 GN=XRCC3 PE=1 SV=1 CANONICAL=O43542-1" }, "locus": { "chromosome": "14", "start_pos": 103711087, "end_pos": 103708574, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553332.5", "url": "https://www.ensembl.org/id/ENST00000553332.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450780.1", "url": "https://www.ensembl.org/id/ENSP00000450780.1" } ] } }, { "isoform_ac": "G3V399-1", "url": "", "sequence": { "sequence": "MDLDLLDLNPRIIAAIKKAKLKSVKEVLHFSGPDLKRLTNLSSPEVWHLLRTASLHLRGSSILTALQLHQQKERFPTQHQRLSLGCPVLDALLRGGLPLDGITELAGRSSAGKTQLALQLCLAVQFPRQHGGLEAEWQYFFIGGTSEHIC", "length": 150, "header": "tr|G3V399-1|G3V399_HUMAN Computationally mapped isoform of X-ray repair cross complementing 3 OS=Homo sapiens OX=9606 GN=XRCC3 PE=1 SV=1 CANONICAL=O43542-1" }, "locus": { "chromosome": "14", "start_pos": 103711087, "end_pos": 103706332, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553361.5", "url": "https://www.ensembl.org/id/ENST00000553361.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451118.1", "url": "https://www.ensembl.org/id/ENSP00000451118.1" } ] } }, { "isoform_ac": "G3V3C8-1", "url": "", "sequence": { "sequence": "MDLDLLDLNPRIIAAIKKAKLKSVKEVLHFSGPDLKRLTNLSSPEVWHLLRTASLHLRGSSILTALQLHQQKERFPTQHQRLSLGCPVLDALLRGGLPLDGI", "length": 102, "header": "tr|G3V3C8-1|XRCC3_HUMAN Computationally mapped isoform of DNA repair protein XRCC3 OS=Homo sapiens OX=9606 GN=XRCC3 PE=1 SV=1 CANONICAL=O43542-1" }, "locus": { "chromosome": "14", "start_pos": 103711087, "end_pos": 103707103, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555964.5", "url": "https://www.ensembl.org/id/ENST00000555964.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451173.1", "url": "https://www.ensembl.org/id/ENSP00000451173.1" } ] } }, { "isoform_ac": "G3V3H9-1", "url": "", "sequence": { "sequence": "MDLDLLDLNPRIIAAIKKAKLKSVKEVLHFSGPDLKRLTNLSSPEVWHLLRTASLHLRGSSILTALQLHQQKERFPTQHQRLSLGCPVLDALLRGGLPLDGITELAGRSSAG", "length": 112, "header": "tr|G3V3H9-1|G3V3H9_HUMAN Computationally mapped isoform of X-ray repair cross complementing 3 OS=Homo sapiens OX=9606 GN=XRCC3 PE=1 SV=1 CANONICAL=O43542-1" }, "locus": { "chromosome": "14", "start_pos": 103711087, "end_pos": 103707073, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556980.5", "url": "https://www.ensembl.org/id/ENST00000556980.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451252.1", "url": "https://www.ensembl.org/id/ENSP00000451252.1" } ] } }, { "isoform_ac": "G3V3Q2-1", "url": "", "sequence": { "sequence": "MARLVVIDSVAAPFRCEFDSQASAPRARHLQSLGATLRELSSAFQSPVLCINQVTEAMEEQGAAHGPLGFWDERVSPALGITWANQLLVRLLADRLREEEAALGCPARTLRVLSAPHLPPSSCSYTISAEGVRGTPGTQSH", "length": 141, "header": "tr|G3V3Q2-1|G3V3Q2_HUMAN Computationally mapped isoform of X-ray repair cross complementing 3 OS=Homo sapiens OX=9606 GN=XRCC3 PE=1 SV=1 CANONICAL=O43542-1" }, "locus": { "chromosome": "14", "start_pos": 103699522, "end_pos": 103698801, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554974.5", "url": "https://www.ensembl.org/id/ENST00000554974.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451361.1", "url": "https://www.ensembl.org/id/ENSP00000451361.1" } ] } }, { "isoform_ac": "G3V5K0-1", "url": "", "sequence": { "sequence": "MDLDLLDLNPRIIAAIKKAKLKSVKEVLHFSGPDLKRLTNLSSPEVWHLLRTASLHLRGSS", "length": 61, "header": "tr|G3V5K0-1|G3V5K0_HUMAN Computationally mapped isoform of X-ray repair cross complementing 3 OS=Homo sapiens OX=9606 GN=XRCC3 PE=1 SV=1 CANONICAL=O43542-1" }, "locus": { "chromosome": "14", "start_pos": 103711087, "end_pos": 103708532, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556682.5", "url": "https://www.ensembl.org/id/ENST00000556682.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452389.1", "url": "https://www.ensembl.org/id/ENSP00000452389.1" } ] } }, { "isoform_ac": "O43542-1", "url": "", "sequence": { "sequence": "MDLDLLDLNPRIIAAIKKAKLKSVKEVLHFSGPDLKRLTNLSSPEVWHLLRTASLHLRGSSILTALQLHQQKERFPTQHQRLSLGCPVLDALLRGGLPLDGITELAGRSSAGKTQLALQLCLAVQFPRQHGGLEAGAVYICTEDAFPHKRLQQLMAQQPRLRTDVPGELLQKLRFGSQIFIEHVADVDTLLECVNKKVPVLLSRGMARLVVIDSVAAPFRCEFDSQASAPRARHLQSLGATLRELSSAFQSPVLCINQVTEAMEEQGAAHGPLGFWDERVSPALGITWANQLLVRLLADRLREEEAALGCPARTLRVLSAPHLPPSSCSYTISAEGVRGTPGTQSH", "length": 346, "header": "sp|O43542-1|XRCC3_HUMAN Isoform 1 of DNA repair protein XRCC3 OS=Homo sapiens OX=9606 GN=XRCC3 PE=1 SV=1 CANONICAL=O43542-1" }, "locus": { "chromosome": "14", "start_pos": 103711087, "end_pos": 103698801, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554913.5", "url": "https://www.ensembl.org/id/ENST00000554913.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451362.1", "url": "https://www.ensembl.org/id/ENSP00000451362.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 225, "end_pos": 225, "kinase_uniprot_canonical_ac": "Q13535-1", "kinase_gene_name": "ATR", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43542", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43542" }, { "database": "PubMed", "id": "23438602", "url": "https://glygen.org/publication/PubMed/23438602" } ], "site_lbl": "Ser225" }, { "start_pos": 225, "end_pos": 225, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43542", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43542" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "phospho.ELM", "id": "O43542", "url": "http://phospho.elm.eu.org/byAccession/O43542.html" }, { "database": "PubMed", "id": "23438602", "url": "https://glygen.org/publication/PubMed/23438602" } ], "site_lbl": "Ser225" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Low fidelity DNA synthesis by human DNA polymerase-eta.", "journal": "Nature", "date": "2000", "authors": "Matsuda T, Bebenek K, Masutani C, Hanaoka F, Kunkel TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942" } ], "reference": [ { "type": "PubMed", "id": "10801132", "url": "https://glygen.org/publication/PubMed/10801132" } ] }, { "title": "Mechanisms of accurate translesion synthesis by human DNA polymerase eta.", "journal": "The EMBO journal", "date": "2000", "authors": "Masutani C, Kusumoto R, Iwai S, Hanaoka F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942" } ], "reference": [ { "type": "PubMed", "id": "10856253", "url": "https://glygen.org/publication/PubMed/10856253" } ] }, { "title": "Fidelity and processivity of DNA synthesis by DNA polymerase kappa, the product of the human DINB1 gene.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Ohashi E, Bebenek K, Matsuda T, Feaver WJ, Gerlach VL, Friedberg EC, Ohmori H, Kunkel TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942" } ], "reference": [ { "type": "PubMed", "id": "11006276", "url": "https://glygen.org/publication/PubMed/11006276" } ] }, { "title": "A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer.", "journal": "Cancer research", "date": "2000", "authors": "Winsey SL, Haldar NA, Marsh HP, Bunce M, Marshall SE, Harris AL, Wojnarowska F, Welsh KI", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "reference": [ { "type": "PubMed", "id": "11059748", "url": "https://glygen.org/publication/PubMed/11059748" } ] }, { "title": "Complex formation by the human RAD51C and XRCC3 recombination repair proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Masson JY, Stasiak AZ, Stasiak A, Benson FE, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "11459987", "url": "https://glygen.org/publication/PubMed/11459987" } ] }, { "title": "RAD51C interacts with RAD51B and is central to a larger protein complex in vivo exclusive of RAD51.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Miller KA, Yoshikawa DM, McConnell IR, Clark R, Schild D, Albala JS", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "reference": [ { "type": "PubMed", "id": "11744692", "url": "https://glygen.org/publication/PubMed/11744692" } ] }, { "title": "Identification and purification of two distinct complexes containing the five RAD51 paralogs.", "journal": "Genes Dev.", "date": "2001", "authors": "Masson JY, Tarsounas MC, Stasiak AZ, Stasiak A, Shah R, McIlwraith MJ, Benson FE, West SC", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" }, { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "11751635", "url": "https://glygen.org/publication/PubMed/11751635" } ] }, { "title": "Involvement of Rad51C in two distinct protein complexes of Rad51 paralogs in human cells.", "journal": "Nucleic Acids Res.", "date": "2002", "authors": "Liu Nan, Schild David, Thelen Michael P, Thompson Larry H", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "reference": [ { "type": "PubMed", "id": "11842113", "url": "https://glygen.org/publication/PubMed/11842113" } ] }, { "title": "Variants in DNA double-strand break repair genes and breast cancer susceptibility.", "journal": "Hum. Mol. Genet.", "date": "2002", "authors": "Kuschel Bettina, Auranen Annika, McBride Simon, Novik Karen L, Antoniou Antonis, Lipscombe Julian M, Day Nicholas E, Easton Douglas F, Ponder Bruce A J, Pharoah Paul D P, Dunning Alison", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "reference": [ { "type": "PubMed", "id": "12023982", "url": "https://glygen.org/publication/PubMed/12023982" } ] }, { "title": "A variant of the DNA repair gene XRCC3 and risk of squamous cell carcinoma of the head and neck: a case-control analysis.", "journal": "International journal of cancer", "date": "2002", "authors": "Shen H, Sturgis EM, Dahlstrom KR, Zheng Y, Spitz MR, Wei Q", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "12115490", "url": "https://glygen.org/publication/PubMed/12115490" } ] }, { "title": "Polymorphisms of XRCC1 and XRCC3 genes and susceptibility to breast cancer.", "journal": "Cancer letters", "date": "2003", "authors": "Smith TR, Miller MS, Lohman K, Lange EM, Case LD, Mohrenweiser HW, Hu JJ", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "12565173", "url": "https://glygen.org/publication/PubMed/12565173" } ] }, { "title": "Identification and characterization of human MUS81-MMS4 structure-specific endonuclease.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Ogrunc M, Sancar A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "12686547", "url": "https://glygen.org/publication/PubMed/12686547" } ] }, { "title": "Identification and characterization of the human mus81-eme1 endonuclease.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Ciccia A, Constantinou A, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "12721304", "url": "https://glygen.org/publication/PubMed/12721304" } ] }, { "title": "No association between the DNA repair gene XRCC3 T241M polymorphism and risk of skin cancer and breast cancer.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "2003", "authors": "Jacobsen NR, Nexo BA, Olsen A, Overvad K, Wallin H, Tjonneland A, Vogel U", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "12815008", "url": "https://glygen.org/publication/PubMed/12815008" } ] }, { "title": "Rad51 recombinase and recombination mediators.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Sung P, Krejci L, Van Komen S, Sehorn MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "12912992", "url": "https://glygen.org/publication/PubMed/12912992" } ] }, { "title": "Generating crossovers by resolution of nicked Holliday junctions: a role for Mus81-Eme1 in meiosis.", "journal": "Molecular cell", "date": "2003", "authors": "Osman F, Dixon J, Doe CL, Whitby MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "14527420", "url": "https://glygen.org/publication/PubMed/14527420" } ] }, { "title": "DNA-repair genetic polymorphisms and breast cancer risk.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "2003", "authors": "Smith TR, Levine EA, Perrier ND, Miller MS, Freimanis RI, Lohman K, Case LD, Xu J, Mohrenweiser HW, Hu JJ", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "14652281", "url": "https://glygen.org/publication/PubMed/14652281" } ] }, { "title": "Polymorphisms in DNA repair and metabolic genes in bladder cancer.", "journal": "Carcinogenesis", "date": "2004", "authors": "Sanyal S, Festa F, Sakano S, Zhang Z, Steineck G, Norming U, Wijkstrom H, Larsson P, Kumar R, Hemminki K", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "14688016", "url": "https://glygen.org/publication/PubMed/14688016" } ] }, { "title": "Domain mapping of the Rad51 paralog protein complexes.", "journal": "Nucleic Acids Res.", "date": "2004", "authors": "Miller Kristi A, Sawicka Dorota, Barsky Daniel, Albala Joanna S", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "reference": [ { "type": "PubMed", "id": "14704354", "url": "https://glygen.org/publication/PubMed/14704354" } ] }, { "title": "RAD51C is required for Holliday junction processing in mammalian cells.", "journal": "Science (New York, N.Y.)", "date": "2004", "authors": "Liu Y, Masson JY, Shah R, O'Regan P, West SC", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" }, { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "14716019", "url": "https://glygen.org/publication/PubMed/14716019" } ] }, { "title": "Polymorphisms of DNA repair gene XRCC3 Thr241Met and risk of gastric cancer in a Chinese population.", "journal": "Cancer letters", "date": "2004", "authors": "Shen H, Wang X, Hu Z, Zhang Z, Xu Y, Hu X, Guo J, Wei Q", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "15019159", "url": "https://glygen.org/publication/PubMed/15019159" } ] }, { "title": "MS-920: DNA repair gene polymorphisms, diet and colorectal cancer risk in Taiwan.", "journal": "Cancer letters", "date": "2005", "authors": "Yeh CC, Hsieh LL, Tang R, Chang-Chieh CR, Sung FC", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "15914278", "url": "https://glygen.org/publication/PubMed/15914278" } ] }, { "title": "Trading places: how do DNA polymerases switch during translesion DNA synthesis?", "journal": "Molecular cell", "date": "2005", "authors": "Friedberg EC, Lehmann AR, Fuchs RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942" } ], "reference": [ { "type": "PubMed", "id": "15916957", "url": "https://glygen.org/publication/PubMed/15916957" } ] }, { "title": "Cellular localization of human Rad51C and regulation of ubiquitin-mediated proteolysis of Rad51.", "journal": "J. Cell. Biochem.", "date": "2005", "authors": "Bennett BT, Knight KL", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "reference": [ { "type": "PubMed", "id": "16215984", "url": "https://glygen.org/publication/PubMed/16215984" } ] }, { "title": "The association of the DNA repair gene XRCC3 Thr241Met polymorphism with susceptibility to colorectal cancer in a Chinese population.", "journal": "Cancer genetics and cytogenetics", "date": "2005", "authors": "Jin MJ, Chen K, Song L, Fan CH, Chen Q, Zhu YM, Ma XY, Yao KY", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "16271954", "url": "https://glygen.org/publication/PubMed/16271954" } ] }, { "title": "Human DNA polymerase eta promotes DNA synthesis from strand invasion intermediates of homologous recombination.", "journal": "Molecular cell", "date": "2005", "authors": "McIlwraith MJ, Vaisman A, Liu Y, Fanning E, Woodgate R, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942" } ], "reference": [ { "type": "PubMed", "id": "16337601", "url": "https://glygen.org/publication/PubMed/16337601" } ] }, { "title": "Polymorphisms of DNA repair genes XRCC1 and XRCC3, interaction with environmental exposure and risk of chronic gastritis and gastric cancer.", "journal": "World journal of gastroenterology", "date": "2005", "authors": "Duarte MC, Colombo J, Rossit AR, Caetano A, Borim AA, Wornrath D, Silva AE", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "16425350", "url": "https://glygen.org/publication/PubMed/16425350" } ] }, { "title": "Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses.", "journal": "Human genetics", "date": "2006", "authors": "Garcia-Closas M, Egan KM, Newcomb PA, Brinton LA, Titus-Ernstoff L, Chanock S, Welch R, Lissowska J, Peplonska B, Szeszenia-Dabrowska N, Zatonski W, Bardin-Mikolajczak A, Struewing JP", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "16485136", "url": "https://glygen.org/publication/PubMed/16485136" } ] }, { "title": "Single nucleotide polymorphisms in DNA repair genes and basal cell carcinoma of skin.", "journal": "Carcinogenesis", "date": "2006", "authors": "Thirumaran RK, Bermejo JL, Rudnai P, Gurzau E, Koppova K, Goessler W, Vahter M, Leonardi GS, Clemens F, Fletcher T, Hemminki K, Kumar R", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "16501254", "url": "https://glygen.org/publication/PubMed/16501254" } ] }, { "title": "No association between XRCC1 and XRCC3 gene polymorphisms and breast cancer risk: Iowa Women's Health Study.", "journal": "Cancer detection and prevention", "date": "2006", "authors": "Thyagarajan B, Anderson KE, Folsom AR, Jacobs DR Jr, Lynch CF, Bargaje A, Khaliq W, Gross MD", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "16963196", "url": "https://glygen.org/publication/PubMed/16963196" } ] }, { "title": "DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility: a study on a Portuguese population.", "journal": "Breast cancer research and treatment", "date": "2007", "authors": "Costa S, Pinto D, Pereira D, Rodrigues H, Cameselle-Teijeiro J, Medeiros R, Schmitt F", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "17063276", "url": "https://glygen.org/publication/PubMed/17063276" } ] }, { "title": "Genetic polymorphism of XRCC3 Thr241Met and breast cancer risk: case-control study in Korean women and meta-analysis of 12 studies.", "journal": "Breast cancer research and treatment", "date": "2007", "authors": "Lee SA, Lee KM, Park SK, Choi JY, Kim B, Nam J, Yoo KY, Noh DY, Ahn SH, Kang D", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "17063279", "url": "https://glygen.org/publication/PubMed/17063279" } ] }, { "title": "Role of RAD51C and XRCC3 in genetic recombination and DNA repair.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Liu Y, Tarsounas M, O'regan P, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "17114795", "url": "https://glygen.org/publication/PubMed/17114795" } ] }, { "title": "Polymorphisms in XRCC1, XRCC3, and CCND1 and survival after treatment for metastatic breast cancer.", "journal": "Journal of clinical oncology : official journal of the American Society of Clinical Oncology", "date": "2006", "authors": "Bewick MA, Conlon MS, Lafrenie RM", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "17116943", "url": "https://glygen.org/publication/PubMed/17116943" } ] }, { "title": "Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM.", "journal": "Molecular cell", "date": "2007", "authors": "Ciccia A, Ling C, Coulthard R, Yan Z, Xue Y, Meetei AR, Laghmani el H, Joenje H, McDonald N, de Winter JP, Wang W, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "17289582", "url": "https://glygen.org/publication/PubMed/17289582" } ] }, { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" }, { "database": "iPTMnet", "id": "O43542", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43542" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "title": "The XRCC3 Thr241Met polymorphism and breast cancer risk: a case-control study in a Thai population.", "journal": "Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals", "date": "2007", "authors": "Sangrajrang S, Schmezer P, Burkholder I, Boffetta P, Brennan P, Woelfelschneider A, Bartsch H, Wiangnon S, Cheisilpa A, Popanda O", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "17701750", "url": "https://glygen.org/publication/PubMed/17701750" } ] }, { "title": "Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain.", "journal": "BMC cancer", "date": "2007", "authors": "Lopez-Cima MF, Gonzalez-Arriaga P, Garcia-Castro L, Pascual T, Marron MG, Puente XS, Tardon A", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "17705814", "url": "https://glygen.org/publication/PubMed/17705814" } ] }, { "title": "RAD51AP1 is a structure-specific DNA binding protein that stimulates joint molecule formation during RAD51-mediated homologous recombination.", "journal": "Molecular cell", "date": "2007", "authors": "Modesti M, Budzowska M, Baldeyron C, Demmers JA, Ghirlando R, Kanaar R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "17996710", "url": "https://glygen.org/publication/PubMed/17996710" } ] }, { "title": "Promotion of homologous recombination and genomic stability by RAD51AP1 via RAD51 recombinase enhancement.", "journal": "Molecular cell", "date": "2007", "authors": "Wiese C, Dray E, Groesser T, San Filippo J, Shi I, Collins DW, Tsai MS, Williams GJ, Rydberg B, Sung P, Schild D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "17996711", "url": "https://glygen.org/publication/PubMed/17996711" } ] }, { "title": "DNA repair polymorphisms and outcome of chemotherapy for acute myelogenous leukemia: a report from the Children's Oncology Group.", "journal": "Leukemia", "date": "2008", "authors": "Bhatla D, Gerbing RB, Alonzo TA, Mehta PA, Deal K, Elliott J, Meshinchi S, Geiger H, Perentesis JP, Lange BJ, Davies SM", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "18033323", "url": "https://glygen.org/publication/PubMed/18033323" } ] }, { "title": "RTEL1 maintains genomic stability by suppressing homologous recombination.", "journal": "Cell", "date": "2008", "authors": "Barber LJ, Youds JL, Ward JD, McIlwraith MJ, O'Neil NJ, Petalcorin MI, Martin JS, Collis SJ, Cantor SB, Auclair M, Tissenbaum H, West SC, Rose AM, Boulton SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693554", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693554" } ], "reference": [ { "type": "PubMed", "id": "18957201", "url": "https://glygen.org/publication/PubMed/18957201" } ] }, { "title": "Polymorphisms of the DNA repair genes XRCC1 and XRCC3 and risk of lung and colorectal cancer: a case-control study in a Southern Italian population.", "journal": "Anticancer research", "date": "2008", "authors": "Improta G, Sgambato A, Bianchino G, Zupa A, Grieco V, La Torre G, Traficante A, Cittadini A", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "19031937", "url": "https://glygen.org/publication/PubMed/19031937" } ] }, { "title": "RAD54 controls access to the invading 3'-OH end after RAD51-mediated DNA strand invasion in homologous recombination in Saccharomyces cerevisiae.", "journal": "Nucleic acids research", "date": "2009", "authors": "Li X, Heyer WD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942" } ], "reference": [ { "type": "PubMed", "id": "19074197", "url": "https://glygen.org/publication/PubMed/19074197" } ] }, { "title": "PALB2 links BRCA1 and BRCA2 in the DNA-damage response.", "journal": "Current biology : CB", "date": "2009", "authors": "Zhang F, Ma J, Wu J, Ye L, Cai H, Xia B, Yu X", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "19268590", "url": "https://glygen.org/publication/PubMed/19268590" } ] }, { "title": "PALB2 is an integral component of the BRCA complex required for homologous recombination repair.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Sy SM, Huen MS, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "19369211", "url": "https://glygen.org/publication/PubMed/19369211" } ] }, { "title": "Polymorphism of the homologous recombination repair genes RAD51 and XRCC3 in breast cancer.", "journal": "Experimental and molecular pathology", "date": "2009", "authors": "Krupa R, Synowiec E, Pawlowska E, Morawiec Z, Sobczuk A, Zadrozny M, Wozniak K, Blasiak J", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "19426727", "url": "https://glygen.org/publication/PubMed/19426727" } ] }, { "title": "Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases.", "journal": "Cell", "date": "2009", "authors": "Fekairi S, Scaglione S, Chahwan C, Taylor ER, Tissier A, Coulon S, Dong MQ, Ruse C, Yates JR 3rd, Russell P, Fuchs RP, McGowan CH, Gaillard PHL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "19596236", "url": "https://glygen.org/publication/PubMed/19596236" } ] }, { "title": "Association of polymorphisms in genes of the homologous recombination DNA repair pathway and thyroid cancer risk.", "journal": "Thyroid : official journal of the American Thyroid Association", "date": "2009", "authors": "Bastos HN, Antao MR, Silva SN, Azevedo AP, Manita I, Teixeira V, Pina JE, Gil OM, Ferreira TC, Limbert E, Rueff J, Gaspar JF", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "19772428", "url": "https://glygen.org/publication/PubMed/19772428" } ] }, { "title": "PCNA is required for initiation of recombination-associated DNA synthesis by DNA polymerase delta.", "journal": "Molecular cell", "date": "2009", "authors": "Li X, Stith CM, Burgers PM, Heyer WD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942" } ], "reference": [ { "type": "PubMed", "id": "19941829", "url": "https://glygen.org/publication/PubMed/19941829" } ] }, { "title": "Breast cancer risk and common single nucleotide polymorphisms in homologous recombination DNA repair pathway genes XRCC2, XRCC3, NBS1 and RAD51.", "journal": "Cancer epidemiology", "date": "2010", "authors": "Silva SN, Tomar M, Paulo C, Gomes BC, Azevedo AP, Teixeira V, Pina JE, Rueff J, Gaspar JF", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "20004634", "url": "https://glygen.org/publication/PubMed/20004634" } ] }, { "title": "Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population.", "journal": "Breast cancer research and treatment", "date": "2010", "authors": "Jara L, Dubois K, Gaete D, de Mayo T, Ratkevicius N, Bravo T, Margarit S, Blanco R, Gomez F, Waugh E, Peralta O, Reyes JM, Ibanez G, Gonzalez-Hormazabal P", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "20054644", "url": "https://glygen.org/publication/PubMed/20054644" } ] }, { "title": "Ring-shaped Rad51 paralog protein complexes bind Holliday junctions and replication forks as visualized by electron microscopy.", "journal": "J. Biol. Chem.", "date": "2010", "authors": "Compton SA, Ozgur S, Griffith JD", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" }, { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "20207730", "url": "https://glygen.org/publication/PubMed/20207730" } ] }, { "title": "Discovery of a novel function for human Rad51: maintenance of the mitochondrial genome.", "journal": "The Journal of biological chemistry", "date": "2010-06-18", "authors": "Sage Jay M, Gildemeister Otto S, Knight Kendall L", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "reference": [ { "type": "PubMed", "id": "20413593", "url": "https://glygen.org/publication/PubMed/20413593" } ] }, { "title": "Single-nucleotide polymorphisms in DNA-repair genes and cutaneous melanoma.", "journal": "Mutation research", "date": "2010", "authors": "Figl A, Scherer D, Nagore E, Bermejo JL, Botella-Estrada R, Gast A, Thirumaran RK, Planelles D, Hemminki K, Schadendorf D, Kumar R", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "20601096", "url": "https://glygen.org/publication/PubMed/20601096" } ] }, { "title": "Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination.", "journal": "Nature structural & molecular biology", "date": "2010", "authors": "Buisson R, Dion-Cote AM, Coulombe Y, Launay H, Cai H, Stasiak AZ, Stasiak A, Xia B, Masson JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "20871615", "url": "https://glygen.org/publication/PubMed/20871615" } ] }, { "title": "Enhancement of RAD51 recombinase activity by the tumor suppressor PALB2.", "journal": "Nature structural & molecular biology", "date": "2010", "authors": "Dray E, Etchin J, Wiese C, Saro D, Williams GJ, Hammel M, Yu X, Galkin VE, Liu D, Tsai MS, Sy SM, Schild D, Egelman E, Chen J, Sung P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "20871616", "url": "https://glygen.org/publication/PubMed/20871616" } ] }, { "title": "The DNA damage response: making it safe to play with knives.", "journal": "Molecular cell", "date": "2010", "authors": "Ciccia A, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "20965415", "url": "https://glygen.org/publication/PubMed/20965415" } ] }, { "title": "Polymorphisms in RAD51, XRCC2 and XRCC3 genes of the homologous recombination repair in colorectal cancer--a case control study.", "journal": "Molecular biology reports", "date": "2011", "authors": "Krupa R, Sliwinski T, Wisniewska-Jarosinska M, Chojnacki J, Wasylecka M, Dziki L, Morawiec J, Blasiak J", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "21104022", "url": "https://glygen.org/publication/PubMed/21104022" } ] }, { "title": "Re: Li et al.: XRCC3 T241M polymorphism and bladder cancer risk: a meta-analysis (Urology 2010;77:511).", "journal": "Urology", "date": "2011", "authors": "Zou YF, Wang F, Feng XL", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "21377025", "url": "https://glygen.org/publication/PubMed/21377025" } ] }, { "title": "Single nucleotide polymorphisms in the homologous recombination repair genes and breast cancer risk in Polish women.", "journal": "The Tohoku journal of experimental medicine", "date": "2011", "authors": "Romanowicz-Makowska H, Smolarz B, Zadrozny M, Westfal B, Baszczynski J, Polac I, Sporny S", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "21701125", "url": "https://glygen.org/publication/PubMed/21701125" } ] }, { "title": "Re: Li et al.: XRCC3 T241M Polymorphism and bladder cancer risk: a meta-analysis (Urology 2011;77:e511-e515).", "journal": "Urology", "date": "2011", "authors": "Wei B, Xu Z", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "21712134", "url": "https://glygen.org/publication/PubMed/21712134" } ] }, { "title": "RAD51 and XRCC3 gene polymorphisms and the risk of developing acute myeloid leukemia.", "journal": "Journal of investigative medicine : the official publication of the American Federation for Clinical Research", "date": "2011", "authors": "Hamdy MS, El-Haddad AM, Bahaa El-Din NM, Makhlouf MM, Abdel-Hamid SM", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "21725251", "url": "https://glygen.org/publication/PubMed/21725251" } ] }, { "title": "hSWS1.SWSAP1 is an evolutionarily conserved complex required for efficient homologous recombination repair.", "journal": "J. Biol. Chem.", "date": "2011", "authors": "Liu T, Wan L, Wu Y, Chen J, Huang J", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "reference": [ { "type": "PubMed", "id": "21965664", "url": "https://glygen.org/publication/PubMed/21965664" } ] }, { "title": "Variation in DNA repair gene XRCC3 affects susceptibility to astrocytomas and glioblastomas.", "journal": "Genetics and molecular research : GMR", "date": "2012", "authors": "Custodio AC, Almeida LO, Pinto GR, Santos MJ, Almeida JR, Clara CA, Rey JA, Casartelli C", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "22370935", "url": "https://glygen.org/publication/PubMed/22370935" } ] }, { "title": "Association of XRCC3 and XPD751 SNP with efficacy of platinum-based chemotherapy in advanced NSCLC patients.", "journal": "Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico", "date": "2012", "authors": "Chen X, Sun H, Ren S, Kim Curran V, Zhang L, Zhou S, Zhang J, Zhou C", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "22374424", "url": "https://glygen.org/publication/PubMed/22374424" } ] }, { "title": "Single nucleotide polymorphisms of RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met homologous recombination repair genes and the risk of sporadic endometrial cancer in Polish women.", "journal": "The journal of obstetrics and gynaecology research", "date": "2012", "authors": "Romanowicz-Makowska H, Smolarz B, Polac I, Sporny S", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "22487057", "url": "https://glygen.org/publication/PubMed/22487057" } ] }, { "title": "RTEL1 contributes to DNA replication and repair and telomere maintenance.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Uringa EJ, Lisaingo K, Pickett HA, Brind'Amour J, Rohde JH, Zelensky A, Essers J, Lansdorp PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693554", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693554" } ], "reference": [ { "type": "PubMed", "id": "22593209", "url": "https://glygen.org/publication/PubMed/22593209" } ] }, { "title": "The association between polymorphisms of the RAD51-G135C, XRCC2-Arg188His and XRCC3-Thr241Met genes and clinico-pathologic features in breast cancer in Poland.", "journal": "European journal of gynaecological oncology", "date": "2012", "authors": "Romanowicz-Makowska H, Smolarz B, Zadrozny M, Westfa B, Baszczynski J, Kokolaszwili G, Burzyfiski M, Polac I, Sporny S", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "22611952", "url": "https://glygen.org/publication/PubMed/22611952" } ] }, { "title": "Mus81-Mms4 functions as a single heterodimer to cleave nicked intermediates in recombinational DNA repair.", "journal": "Molecular and cellular biology", "date": "2012", "authors": "Schwartz EK, Wright WD, Ehmsen KT, Evans JE, Stahlberg H, Heyer WD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "22645308", "url": "https://glygen.org/publication/PubMed/22645308" } ] }, { "title": "Single nucleotide polymorphism (SNP) Thr241Met in the XRCC3 gene and breast cancer risk in Polish women.", "journal": "Polish journal of pathology : official journal of the Polish Society of Pathologists", "date": "2012", "authors": "Romanowicz-Makowska H, Brys M, Forma E, Maciejczyk R, Polac I, Samulak D, Michalska M, Smolarz B", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "22864780", "url": "https://glygen.org/publication/PubMed/22864780" } ] }, { "title": "The RAD51 paralogs ensure cellular protection against mitotic defects and aneuploidy.", "journal": "Journal of cell science", "date": "2013", "authors": "Rodrigue A, Coulombe Y, Jacquet K, Gagne JP, Roques C, Gobeil S, Poirier G, Masson JY", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "reference": [ { "type": "PubMed", "id": "23108668", "url": "https://glygen.org/publication/PubMed/23108668" } ] }, { "title": "Rad51 paralog complexes BCDX2 and CX3 act at different stages in the BRCA1-BRCA2-dependent homologous recombination pathway.", "journal": "Molecular and cellular biology", "date": "2013", "authors": "Chun J, Buechelmaier ES, Powell SN", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" }, { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "23149936", "url": "https://glygen.org/publication/PubMed/23149936" } ] }, { "title": "Polymorphisms in DNA repair genes and susceptibility to glioma in a chinese population.", "journal": "International journal of molecular sciences", "date": "2013", "authors": "Pan WR, Li G, Guan JH", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "23385236", "url": "https://glygen.org/publication/PubMed/23385236" } ] }, { "title": "The relationship between XRCC1 and XRCC3 gene polymorphisms and lung cancer risk in northeastern Chinese.", "journal": "PloS one", "date": "2013", "authors": "Guo S, Li X, Gao M, Li Y, Song B, Niu W", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "23409158", "url": "https://glygen.org/publication/PubMed/23409158" } ] }, { "title": "ATM- and ATR-mediated phosphorylation of XRCC3 regulates DNA double-strand break-induced checkpoint activation and repair.", "journal": "Molecular and cellular biology", "date": "2013", "authors": "Somyajit K, Basavaraju S, Scully R, Nagaraju G", "evidence": [ { "database": "iPTMnet", "id": "O43542", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43542" } ], "reference": [ { "type": "PubMed", "id": "23438602", "url": "https://glygen.org/publication/PubMed/23438602" } ] }, { "title": "XRCC3 gene polymorphism is associated with survival in Japanese lung cancer patients.", "journal": "International journal of molecular sciences", "date": "2012", "authors": "Osawa K, Nakarai C, Uchino K, Yoshimura M, Tsubota N, Takahashi J, Kido Y", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "23443124", "url": "https://glygen.org/publication/PubMed/23443124" } ] }, { "title": "Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Wan L, Han J, Liu T, Dong S, Xie F, Chen H, Huang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "23509288", "url": "https://glygen.org/publication/PubMed/23509288" } ] }, { "title": "Polymorphisms in DNA repair genes and risk of glioma and meningioma.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2013", "authors": "Luo KQ, Mu SQ, Wu ZX, Shi YN, Peng JC", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "23534771", "url": "https://glygen.org/publication/PubMed/23534771" } ] }, { "title": "XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nucleotide polymorphisms in cervical cancer risk.", "journal": "Pathology oncology research : POR", "date": "2013", "authors": "Perez LO, Crivaro A, Barbisan G, Poleri L, Golijow CD", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "23539294", "url": "https://glygen.org/publication/PubMed/23539294" } ] }, { "title": "Preferential D-loop extension by a translesion DNA polymerase underlies error-prone recombination.", "journal": "Nature structural & molecular biology", "date": "2013", "authors": "Pomerantz RT, Kurth I, Goodman MF, O'Donnell ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942" } ], "reference": [ { "type": "PubMed", "id": "23686288", "url": "https://glygen.org/publication/PubMed/23686288" } ] }, { "title": "Role of PCNA and TLS polymerases in D-loop extension during homologous recombination in humans.", "journal": "DNA repair", "date": "2013", "authors": "Sebesta M, Burkovics P, Juhasz S, Zhang S, Szabo JE, Lee MY, Haracska L, Krejci L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942" } ], "reference": [ { "type": "PubMed", "id": "23731732", "url": "https://glygen.org/publication/PubMed/23731732" } ] }, { "title": "XRCC3 Thr241Met polymorphism and risk of acute myeloid leukemia in a Romanian population.", "journal": "Gene", "date": "2013", "authors": "Banescu C, Tilinca M, Benedek EL, Demian S, Macarie I, Duicu C, Dobreanu M", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "23747401", "url": "https://glygen.org/publication/PubMed/23747401" } ] }, { "title": "The XRCC3 Thr241Met polymorphism influences glioma risk - a meta-analysis.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2013", "authors": "Jiang J, Quan XF, Zhang L, Wang YC", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "23803098", "url": "https://glygen.org/publication/PubMed/23803098" } ] }, { "title": "DNA repair gene XRCC3 Thr241Met polymorphism and hepatocellular carcinoma risk.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2013", "authors": "Duan C, Zhang W, Lu J, Wu H, Liu M, Zhu W", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "23824570", "url": "https://glygen.org/publication/PubMed/23824570" } ] }, { "title": "DNA repair gene XRCC3 Thr241Met polymorphism and glioma risk: a meta-analysis.", "journal": "International journal of clinical and experimental medicine", "date": "2013", "authors": "Zhao B, Ye J, Li B, Ma Q, Su G, Han R", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "23844267", "url": "https://glygen.org/publication/PubMed/23844267" } ] }, { "title": "XRCC3 Thr241Met polymorphism and clinical outcomes of NSCLC patients receiving platinum-based chemotherapy: a systematic review and meta-analysis.", "journal": "PloS one", "date": "2013", "authors": "Shen XY, Lu FZ, Wu Y, Zhao LT, Lin ZF", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "23940523", "url": "https://glygen.org/publication/PubMed/23940523" } ] }, { "title": "Coordinated actions of SLX1-SLX4 and MUS81-EME1 for Holliday junction resolution in human cells.", "journal": "Molecular cell", "date": "2013", "authors": "Wyatt HD, Sarbajna S, Matos J, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "24076221", "url": "https://glygen.org/publication/PubMed/24076221" } ] }, { "title": "XRCC3 Thr241Met is associated with response to platinum-based chemotherapy but not survival in advanced non-small cell lung cancer.", "journal": "PloS one", "date": "2013", "authors": "Qiu M, Xu L, Yang X, Ding X, Hu J, Jiang F, Xu L, Yin R", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "24116196", "url": "https://glygen.org/publication/PubMed/24116196" } ] }, { "title": "Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.", "journal": "Oncogene", "date": "2014", "authors": "Park JY, Singh TR, Nassar N, Zhang F, Freund M, Hanenberg H, Meetei AR, Andreassen PR", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" }, { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "24141787", "url": "https://glygen.org/publication/PubMed/24141787" } ] }, { "title": "Association of Thr241Met polymorphism of XRCC3 gene with risk of colorectal cancer in the Polish population.", "journal": "Polish journal of pathology : official journal of the Polish Society of Pathologists", "date": "2013", "authors": "Mucha B, Przybylowska-Sygut K, Dziki AJ, Dziki L, Sygut A, Majsterek I", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "24166604", "url": "https://glygen.org/publication/PubMed/24166604" } ] }, { "title": "Quantitative assessment of the associations between DNA repair gene XRCC3 Thr241Met polymorphism and gastric cancer.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2014", "authors": "Wang Z, Chen X, Liu B, Li S, Liu M, Xue H", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "24197974", "url": "https://glygen.org/publication/PubMed/24197974" } ] }, { "title": "Comprehensive assessment of the association between DNA repair gene XRCC3 Thr241Met polymorphism and leukemia risk.", "journal": "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "date": "2014", "authors": "Qin L, Chen X, Li P, Yang Z, Mo W", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "24197983", "url": "https://glygen.org/publication/PubMed/24197983" } ] }, { "title": "Substrate specificity of the MUS81-EME2 structure selective endonuclease.", "journal": "Nucleic acids research", "date": "2014", "authors": "Pepe A, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "24371268", "url": "https://glygen.org/publication/PubMed/24371268" } ] }, { "title": "Association between the XRCC3 Thr241Met polymorphism and cervical cancer risk: a meta-analysis.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2014", "authors": "Qin LY, Chen X, Li P, Yang Z, Mo WN", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "24377592", "url": "https://glygen.org/publication/PubMed/24377592" } ] }, { "title": "Increased risk of differentiated thyroid carcinoma with combined effects of homologous recombination repair gene polymorphisms in an Iranian population.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2014", "authors": "Fayaz S, Karimmirza M, Tanhaei S, Fathi M, Torbati PM, Fard-Esfahani P", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "24377596", "url": "https://glygen.org/publication/PubMed/24377596" } ] }, { "title": "Breast cancer proteins PALB2 and BRCA2 stimulate polymerase eta in recombination-associated DNA synthesis at blocked replication forks.", "journal": "Cell reports", "date": "2014", "authors": "Buisson R, Niraj J, Pauty J, Maity R, Zhao W, Coulombe Y, Sung P, Masson JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942" } ], "reference": [ { "type": "PubMed", "id": "24485656", "url": "https://glygen.org/publication/PubMed/24485656" } ] }, { "title": "Structural and mechanistic insight into Holliday-junction dissolution by topoisomerase IIIalpha and RMI1.", "journal": "Nature structural & molecular biology", "date": "2014", "authors": "Bocquet N, Bizard AH, Abdulrahman W, Larsen NB, Faty M, Cavadini S, Bunker RD, Kowalczykowski SC, Cejka P, Hickson ID, Thoma NH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "24509834", "url": "https://glygen.org/publication/PubMed/24509834" } ] }, { "title": "No association between XRCC3 Thr241Met and XPD Lys751Gln polymorphisms and the risk of colorectal cancer in West Algerian population: a case-control study.", "journal": "Medical oncology (Northwood, London, England)", "date": "2014", "authors": "Moghtit FZ, Aberkane MS, Le Morvan V, Louhibi L, Bellot R, Bousahba A, Megaiz A, Fodil M, Mediene-Benchekor S, Zemani-Fodil F, Boudjema A, Robert J, Saidi-Mehtar N", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "24687779", "url": "https://glygen.org/publication/PubMed/24687779" } ] }, { "title": "Association between single nucleotide polymorphisms (SNPs) of XRCC2 and XRCC3 homologous recombination repair genes and triple-negative breast cancer in Polish women.", "journal": "Clinical and experimental medicine", "date": "2015", "authors": "Smolarz B, Makowska M, Samulak D, Michalska MM, Mojs E, Wilczak M, Romanowicz H", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "24728564", "url": "https://glygen.org/publication/PubMed/24728564" } ] }, { "title": "XRCC3 Thr241Met (rs861539) polymorphism and leukemia risk: unresolved controversy.", "journal": "Leukemia & lymphoma", "date": "2015", "authors": "Li SY, Yang M", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "24794803", "url": "https://glygen.org/publication/PubMed/24794803" } ] }, { "title": "Roles of SLX1-SLX4, MUS81-EME1, and GEN1 in avoiding genome instability and mitotic catastrophe.", "journal": "Genes & development", "date": "2014", "authors": "Sarbajna S, Davies D, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "24831703", "url": "https://glygen.org/publication/PubMed/24831703" } ] }, { "title": "DNA repair gene XRCC3 Thr241Met polymorphism and susceptibility to glioma: A case-control study.", "journal": "Oncology letters", "date": "2014", "authors": "Xu G, Wang M, Xie W, Bai X", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "25013509", "url": "https://glygen.org/publication/PubMed/25013509" } ] }, { "title": "Meta analysis of XRCC3 Thr241Met polymorphism and lung cancer susceptibility of populations in East Asia.", "journal": "Asian Pacific journal of tropical medicine", "date": "2014", "authors": "Xing ZS, Zhu G, Yang YL, Feng GQ, Ding GC", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "25066399", "url": "https://glygen.org/publication/PubMed/25066399" } ] }, { "title": "Polymorphisms in DNA repair genes XRCC1 and XRCC3, occupational exposure to arsenic and sunlight, and the risk of non-melanoma skin cancer in a European case-control study.", "journal": "Environmental research", "date": "2014", "authors": "Surdu S, Fitzgerald EF, Bloom MS, Boscoe FP, Carpenter DO, Haase RF, Gurzau E, Rudnai P, Koppova K, Vahter M, Leonardi G, Goessler W, Kumar R, Fletcher T", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "25218703", "url": "https://glygen.org/publication/PubMed/25218703" } ] }, { "title": "Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt.", "journal": "Genetic testing and molecular biomarkers", "date": "2014", "authors": "Ramadan RA, Desouky LM, Elnaggar MA, Moaaz M, Elsherif AM", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "25340946", "url": "https://glygen.org/publication/PubMed/25340946" } ] }, { "title": "Correlation between selected XRCC2, XRCC3 and RAD51 gene polymorphisms and primary breast cancer in women in Pakistan.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2014", "authors": "Qureshi Z, Mahjabeen I, Baig R, Kayani M", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "25556451", "url": "https://glygen.org/publication/PubMed/25556451" } ] }, { "title": "Association of RAD 51 135 G/C, 172 G/T and XRCC3 Thr241Met gene polymorphisms with increased risk of head and neck cancer.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2014", "authors": "Kayani MA, Khan S, Baig RM, Mahjabeen I", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "25556492", "url": "https://glygen.org/publication/PubMed/25556492" } ] }, { "title": "Polymorphism of the XRCC3 gene and risk of gastric cancer in a Kashmiri population: a case-control study.", "journal": "European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP)", "date": "2015", "authors": "Bashir H, Majid S, Hamid R, Farooq R, Wani HA, Shoib S, Bhat AA", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "25642794", "url": "https://glygen.org/publication/PubMed/25642794" } ] }, { "title": "Association of XRCC3 gene rs861539 polymorphism with gastric cancer risk: evidence from a case-control study and a meta-analysis.", "journal": "International journal of clinical and experimental pathology", "date": "2015", "authors": "Cheng S, Wang L, Wang L, Wang Z", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "25973083", "url": "https://glygen.org/publication/PubMed/25973083" } ] }, { "title": "Identification of XRCC1 Arg399Gln and XRCC3 Thr241Met Polymorphisms in a Turkish Population and Their Association with the Risk of Chronic Lymphocytic Leukemia.", "journal": "Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion", "date": "2015", "authors": "Mutlu P, Elci MP, Yildirim M, Nevruz O, Cetin AT, Avcu F", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "26085717", "url": "https://glygen.org/publication/PubMed/26085717" } ] }, { "title": "XRCC3 T241M polymorphism and melanoma skin cancer risk: A meta-analysis.", "journal": "Oncology letters", "date": "2015", "authors": "Fan J, Fan Y, Kang X, Zhao L", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "26137085", "url": "https://glygen.org/publication/PubMed/26137085" } ] }, { "title": "Association between XRCC3 Thr241Met Polymorphism and Risk of Breast Cancer: Meta-Analysis of 23 Case-Control Studies.", "journal": "Medical science monitor : international medical journal of experimental and clinical research", "date": "2015", "authors": "Chai F, Liang Y, Chen L, Zhang F, Jiang J", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "26498491", "url": "https://glygen.org/publication/PubMed/26498491" } ] }, { "title": "Association between XRCC3 Thr241Met polymorphism and risk of osteosarcoma in a Chinese population.", "journal": "International journal of clinical and experimental pathology", "date": "2015", "authors": "Yang L, An Y, Wang G, Lu T, Yang S", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "26617908", "url": "https://glygen.org/publication/PubMed/26617908" } ] }, { "title": "DNA repair gene XRCC3 T241M polymorphism and susceptibility to hepatocellular carcinoma in a Chinese population: a meta-analysis.", "journal": "Genetics and molecular research : GMR", "date": "2015", "authors": "Ji RB, Qian YS, Hu AR, Hu YR", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "26662391", "url": "https://glygen.org/publication/PubMed/26662391" } ] }, { "title": "Association between XRCC3 Thr241Met polymorphism and risk of osteosarcoma in a Chinese population.", "journal": "Genetics and molecular research : GMR", "date": "2015", "authors": "Guo J, Lv HC, Shi RH, Liu WL", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "26662447", "url": "https://glygen.org/publication/PubMed/26662447" } ] }, { "title": "XRCC3 Thr241Met and XPD Lys751Gln gene polymorphisms and risk of clear cell renal cell carcinoma.", "journal": "Cancer biomarkers : section A of Disease markers", "date": "2016", "authors": "Loghin A, Banescu C, Nechifor-Boila A, Chibelean C, Orsolya M, Nechifor-Boila A, Tripon F, Voidazan S, Borda A", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "26682510", "url": "https://glygen.org/publication/PubMed/26682510" } ] }, { "title": "Association Between X-Ray Cross-complementing Group 3 (XRCC3) Thr241Met Polymorphism and Risk of Thyroid Cancer: A Meta-Analysis.", "journal": "Medical science monitor : international medical journal of experimental and clinical research", "date": "2015", "authors": "Lu W, Wu G, Zhang B", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "26687776", "url": "https://glygen.org/publication/PubMed/26687776" } ] }, { "title": "Association between single nucleotide polymorphisms (SNPs) of XRCC2 and XRCC3 homologous recombination repair genes and ovarian cancer in Polish women.", "journal": "Experimental and molecular pathology", "date": "2016", "authors": "Michalska MM, Samulak D, Romanowicz H, Jablonski F, Smolarz B", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "26801223", "url": "https://glygen.org/publication/PubMed/26801223" } ] }, { "title": "Analysis of XRCC2 and XRCC3 gene polymorphisms in pancreatic cancer.", "journal": "Biomedical reports", "date": "2016", "authors": "Talar-Wojnarowska R, Gasiorowska A, Olakowski M, Dranka-Bojarowska D, Lampe P, Smolarz B, Malecka-Panas E", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "26893845", "url": "https://glygen.org/publication/PubMed/26893845" } ] }, { "title": "Comment on: `Association Between the XRCC3 Thr241Met Polymorphism and Risk of Colorectal Cancer: A Meta-Analysis of 5,193 Cases and 6,645 Controls`.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2016", "authors": "Sahami-Fard MH, Farashahi Yazd E", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "28030902", "url": "https://glygen.org/publication/PubMed/28030902" } ] }, { "title": "Coupling of Homologous Recombination and the Checkpoint by ATR.", "journal": "Molecular cell", "date": "2017", "authors": "Buisson R, Niraj J, Rodrigue A, Ho CK, Kreuzer J, Foo TK, Hardy EJ, Dellaire G, Haas W, Xia B, Masson JY, Zou L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "28089683", "url": "https://glygen.org/publication/PubMed/28089683" } ] }, { "title": "Colorectal Cancer Carcinogenesis: a Multivariate Genetic Model in a Cohort of Romanian Population.", "journal": "Clinical laboratory", "date": "2017", "authors": "Procopciuc LM, Osian G, Iancu M", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "28397463", "url": "https://glygen.org/publication/PubMed/28397463" } ] }, { "title": "A Strong Relationship Between Oral Squamous Cell Carcinoma and DNA Repair Genes.", "journal": "Biochemical genetics", "date": "2017", "authors": "Avci H, Ergen A, Bireller ES, Ertugrul B, Cakmakoglu B", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "28639054", "url": "https://glygen.org/publication/PubMed/28639054" } ] }, { "title": "DNA Repair Mechanism Gene, XRCC1A ( Arg194Trp) but not XRCC3 ( Thr241Met) Polymorphism Increased the Risk of Breast Cancer in Premenopausal Females: A Case-Control Study in Northeastern Region of India.", "journal": "Technology in cancer research & treatment", "date": "2017", "authors": "Devi KR, Ahmed J, Narain K, Mukherjee K, Majumdar G, Chenkual S, Zonunmawia JC", "evidence": [ { "database": "Entrez", "id": "7517", "url": "https://www.ncbi.nlm.nih.gov/gene/7517" } ], "reference": [ { "type": "PubMed", "id": "29332455", "url": "https://glygen.org/publication/PubMed/29332455" } ] }, { "title": "Association between XRCC3 p.Thr241Met polymorphism and risk of glioma: A systematic review and meta-analysis.", "journal": "PloS one", "date": "2022", "authors": "Tan Shing Cheng, Low Teck Yew, Hussain Hafiz Muhammad Jafar, Sharzehan Mohamad Ayub Khan, Sito Hilary, Kord-Varkaneh Hamed, Islam Md Asiful", "evidence": [ { "database": "RefSeq", "id": "NP_001093588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588" } ], "reference": [ { "type": "PubMed", "id": "36264998", "url": "https://glygen.org/publication/PubMed/36264998" } ] }, { "title": "XRCC3 and NBS1 gene polymorphisms modulate the risk of pre-oral cancer and oral cancer in the North Indian population.", "journal": "Journal of cancer research and therapeutics", "date": "2023", "authors": "Nigam Kumud, Gupta Shalini, Singh Navin, Yadav Suresh Kumar, Sanyal Somali", "evidence": [ { "database": "RefSeq", "id": "NP_001093588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588" } ], "reference": [ { "type": "PubMed", "id": "37006067", "url": "https://glygen.org/publication/PubMed/37006067" } ] }, { "title": "Systematic\u00a0evaluation\u00a0of\u00a0the\u00a0association\u00a0between\u00a0a\u00a0missense\u00a0variant\u00a0in\u00a0XRCC3 gene\u00a0splicing\u00a0site\u00a0and\u00a0the\u00a0pathogenesis\u00a0of\u00a0ovarian\u00a0cancer.", "journal": "Bioscience reports", "date": "2023-05-22", "authors": "Liang Qiulian, Huang Gongchen, Zhong Ping, Deng Dengting, Yang Lin, Yu Xiangyuan", "evidence": [ { "database": "RefSeq", "id": "NP_001093588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588" } ], "reference": [ { "type": "PubMed", "id": "37212185", "url": "https://glygen.org/publication/PubMed/37212185" } ] }, { "title": "Association of RAD51, XRCC1, XRCC2, and XRCC3 Polymorphisms with Risk of Breast Cancer.", "journal": "Genetic testing and molecular biomarkers", "date": "2023-07", "authors": "Gupta Priyanka, Sambyal Vasudha, Guleria Kamlesh, Uppal Manjit Singh, Sudan Meena", "evidence": [ { "database": "RefSeq", "id": "NP_001093588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588" } ], "reference": [ { "type": "PubMed", "id": "37522793", "url": "https://glygen.org/publication/PubMed/37522793" } ] }, { "title": "Impact of Interaction between Single Nucleotide Polymorphism of XRCC1, XRCC2, XRCC3 with Tumor Suppressor Tp53 Gene Increases Risk of Breast Cancer: A Hospital Based Case-Control Study.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2023-09-01", "authors": "Datkhile Kailas D, Gudur Rashmi A, Bhosale Suresh J, Durgawale Pratik P, Jagdale Nilam J, More Ashwini L, Gudur Anand K, Patil Satish R", "evidence": [ { "database": "RefSeq", "id": "NP_001093588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588" } ], "reference": [ { "type": "PubMed", "id": "37774058", "url": "https://glygen.org/publication/PubMed/37774058" } ] }, { "title": "XRCC2 and XRCC3, new human Rad51-family members, promote chromosome stability and protect against DNA cross-links and other damages.", "journal": "Molecular cell", "date": "1998", "authors": "Liu N, Lamerdin JE, Tebbs RS, Schild D, Tucker JD, Shen MR, Brookman KW, Siciliano MJ, Walter CA, Fan W, Narayana LS, Zhou ZQ, Adamson AW, Sorensen KJ, Chen DJ, Jones NJ, Thompson LH", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "reference": [ { "type": "PubMed", "id": "9660962", "url": "https://glygen.org/publication/PubMed/9660962" } ] } ], "pathway": [ { "id": "hsa:7517", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7517", "resource": "KEGG Pathway" }, { "id": "R-HSA-5685942", "name": "HDR through Homologous Recombination (HRR)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942", "resource": "Reactome", "description": "HDR through Homologous Recombination (HRR)" }, { "id": "R-HSA-5693537", "name": "Resolution of D-Loop Structures", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693537", "resource": "Reactome", "description": "Resolution of D-Loop Structures" }, { "id": "R-HSA-5693554", "name": "Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693554", "resource": "Reactome", "description": "Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)" }, { "id": "R-HSA-5693568", "name": "Resolution of D-loop Structures through Holliday Junction Intermediates", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568", "resource": "Reactome", "description": "Resolution of D-loop Structures through Holliday Junction Intermediates" }, { "id": "R-HSA-5693579", "name": "Homologous DNA Pairing and Strand Exchange", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579", "resource": "Reactome", "description": "Homologous DNA Pairing and Strand Exchange" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A5N4-1", "protein_name": "DNA repair protein", "gene_name": "Xrcc3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDLDQLDLNPRITAAIKRGRLKSVKEVLCYSGPDLQRLTSLPSHDVQLLLRAAALHLRGSRVLTALHLFQQRESFPEQHQRLSLGCPVLDQFLGGGLPLEGITGLAGRSSAGKTQLALQLCLAVQFPRQYGGLEAGAVYICTEDAFPSKRLWQLIEQLQELRTDVPGEVTQKIRFGNHIFIEHAADVDTLMECVSKRVPILLSRGMARLVVVDSIAAPFRCEFHLQASAVRAKHLHSLGAALQRLSSTFRSPVLCINQVTEMVEDQESAGAWEERLSPALGITWANQLLMQLMVDRIHEDSVTTGLPRSPARTLRVLFAPHLPLSSCCYTVSGEGVRGMAGTESC", "length": 345 }, "evidence": [ { "id": "45929748", "url": "http://www.informatics.jax.org/homology/45929748", "database": "MGI" }, { "id": "O43542", "url": "https://omabrowser.org/oma/group/O43542/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "F1S9W9-1", "protein_name": "DNA repair protein", "gene_name": "XRCC3", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MDLDHLDLNPRIVAAVKAKLKSAREVLRFSGPDLQRLTGLSGPDVQHLLRAVSSHLRGGSVSTALQLYRQEEEFPEQHQRLSLGCPVLDGLLRGGLPLDGITELAGRSSTGKTQLALQLCLAVQLPRQHGGLGTGAVYVCTEGAFPSRRLQQLVAQQQLLRPDVPGDVLGKIKFGDQIFVEHVADVDTLLDCVSRKVPVLLSRGVARLLVIDSVAAPFRCEFAGADSARRARRLQALGAELRRLSCAFRSPVLCINQVTEAVDAHEAAGAGGERTSPALGITWSSQLLMRLLMDRRRPEEAAPAPPSRTLRLVFAPHLPPWSCCYTVTTEGVRGTPGSESCWMTRQVRVSGRTGLPT", "length": 357 }, "evidence": [ { "id": "O43542", "url": "https://omabrowser.org/oma/group/O43542/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "O77135-1", "protein_name": "Spindle B", "gene_name": "spn-B", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MTNFLDQLPKHIREIAEQVNVLAPEEVLTTPKVRFLDTRQQSLHTIVRKCTPDDVRVLKDAAAKWLAEMPQSADSLFKPLVNVRWSRVSFGCSALDRCTGGGVVTRGITELCGAAGVGKTQLLLQLSLCVQLPRELGGLGKGVAYICTESSFPARRLLQMSKACEKRHPEMELNFLGNIFVENHIEAEPLLACVINRIPRLMQQHGIGLIIIDSVAAIFRLYNDYLERARHMRRLADALLSYADKYNCAVVCVNQVATRDGQDEIPCLGLQWAHLGRTRLRVSRVPKQHRMGDQLITVRKLEILYSPETPNDFAEFLITAEGVVNVPEPSVPSPPAKMRRL", "length": 341 }, "evidence": [ { "id": "O43542", "url": "https://omabrowser.org/oma/group/O43542/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q9CXE6-1", "protein_name": "DNA repair protein XRCC3", "gene_name": "Xrcc3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDLDQLDLNPRITAAVKRGRLKSVKEILCYSGPDLQRLTGLPSHDVQCLLRAASLHLRGSRVLSALHLFQQKESFPEQHQRLSLGCPVLDQFLGGGLPLEGITGLAGCSSAGKTQLALQLCLAVQFPRQYGGLEAGAVYICTEDAFPSKRLWQLIAQQRRLRTDAPEELIEKIRFSNHIFIEHAADVDTLLECVSKKVPILLSRGMARLVVVDSIAAPFRCEFHLQASAIRAKLLLSLGATLRRLSSTFRSPVLCINQVTDMVEDQQSVSRSLGASEERLSPALGITWANQLLMRLMVDRTHEDDVTTGLPRSPVRTLRVLFAPHLPLSSCCYTVSGEGIRGMPGTQSY", "length": 349 }, "evidence": [ { "id": "45929748", "url": "http://www.informatics.jax.org/homology/45929748", "database": "MGI" }, { "id": "O43542", "url": "https://omabrowser.org/oma/group/O43542/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 14, "go_terms": [ { "name": "regulation of centrosome duplication", "id": "GO:0010824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010824", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "telomeric loop disassembly", "id": "GO:0090657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090657", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "response to organic substance", "id": "GO:0010033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010033", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "interstrand cross-link repair", "id": "GO:0036297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036297", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "t-circle formation", "id": "GO:0090656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090656", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "telomere maintenance via telomere trimming", "id": "GO:0090737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090737", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "telomere maintenance via recombination", "id": "GO:0000722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000722", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle spindle assembly checkpoint", "id": "GO:0090267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090267", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "resolution of mitotic recombination intermediates", "id": "GO:0071140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071140", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "double-strand break repair via synthesis-dependent strand annealing", "id": "GO:0045003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045003", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "Rad51C-XRCC3 complex", "id": "GO:0033065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033065", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "replication fork", "id": "GO:0005657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005657", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" }, { "name": "ATP-dependent DNA damage sensor activity", "id": "GO:0140664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140664", "evidence": [ { "database": "UniProtKB", "id": "O43542", "url": "https://www.uniprot.org/uniprot/O43542" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 40, "end_pos": 42, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 225 ], "sequon_annotation_sites": [ { "start_pos": 40, "end_pos": 42 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 131 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }