{ "uniprot_canonical_ac": "P23025-1", "uniprot_ac": "P23025", "uniprot_id": "XPA_HUMAN", "mass": { "chemical_mass": 31368.0, "monoisotopic_mass": 31368.0 }, "refseq": { "ac": "NP_000371", "name": "DNA repair protein complementing XP-A cells isoform 1", "summary": "This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000371" }, "gene_names": [ { "name": "XPA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P23025", "id": "P23025" }, { "name": "XP1; XPAC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000371", "id": "NP_000371" }, { "name": "XPAC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P23025", "id": "P23025" }, { "name": "XPA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000371", "id": "NP_000371" } ], "protein_names": [ { "name": "DNA repair protein complementing XP-A cells", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P23025" }, { "name": "DNA repair protein complementing XP-A cells isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000371", "id": "NP_000371" }, { "name": "DNA repair protein complementing XP-A cells; xeroderma pigmentosum group A-complementing protein; xeroderma pigmentosum, complementation group A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000371", "id": "NP_000371" }, { "name": "Xeroderma pigmentosum group A-complementing protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P23025" } ], "function": [ { "annotation": "A Significant Increasing Risk Association between Cigarette Smoking and XPA and XPC Genes Polymorphisms. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000371", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000371" }, { "database": "PubMed", "id": "37510255", "url": "https://glygen.org/publication/PubMed/37510255" } ] }, { "annotation": "A disease-associated XPA allele interferes with TFIIH binding and primarily affects transcription-coupled nucleotide excision repair.", "evidence": [ { "database": "RefSeq", "id": "NP_000371", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000371" }, { "database": "PubMed", "id": "36893274", "url": "https://glygen.org/publication/PubMed/36893274" } ] }, { "annotation": "Homozygous CRISPR/Cas9 Knockout Generated a Novel Functionally Active Exon 1 Skipping XPA Variant in Melanoma Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000371", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000371" }, { "database": "PubMed", "id": "36232946", "url": "https://glygen.org/publication/PubMed/36232946" } ] }, { "annotation": "Involved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation.", "evidence": [ { "database": "UniProtKB", "id": "P23025", "url": "https://www.uniprot.org/uniprot/P23025#function" }, { "database": "PubMed", "id": "19197159", "url": "https://glygen.org/publication/PubMed/19197159" } ] }, { "annotation": "Lesion recognition by XPC, TFIIH and XPA in DNA excision repair.", "evidence": [ { "database": "RefSeq", "id": "NP_000371", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000371" }, { "database": "PubMed", "id": "37076618", "url": "https://glygen.org/publication/PubMed/37076618" } ] }, { "annotation": "This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_000371", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000371" } ] }, { "annotation": "XPA is a key scaffold protein for human nucleotide excision repair. (Review) Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000371", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000371" }, { "database": "PubMed", "id": "27247238", "url": "https://glygen.org/publication/PubMed/27247238" } ] } ], "disease": [ { "disease_id": "DOID:0110843", "recommended_name": { "id": "DOID:0110843", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110843", "name": "xeroderma pigmentosum group A", "description": "A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22." }, "synonyms": [ { "id": "DOID:0110843", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110843", "name": "XP group A", "description": "" }, { "id": "DOID:0110843", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110843", "name": "XP1", "description": "" }, { "id": "DOID:0110843", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110843", "name": "XPA", "description": "" }, { "id": "DOID:0110843", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110843", "name": "xeroderma pigmentosum 1", "description": "" }, { "id": "DOID:0110843", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110843", "name": "xeroderma pigmentosum complementation group A", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "xeroderma pigmentosum group A", "description": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene." }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "XP group A", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "XP-A", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "XP1", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "XPA", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "XPA xeroderma pigmentosum", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "xeroderma pigmentosum 1", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "xeroderma pigmentosum caused by mutation in XPA", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "xeroderma pigmentosum complementation group A", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "xeroderma pigmentosum group A", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "xeroderma pigmentosum group type A", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "xeroderma pigmentosum, complementation group type a", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "xeroderma pigmentosum, group A", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "XP, group A", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "xeroderma pigmentosum, complementation group A", "description": "" }, { "id": "MONDO:0010210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010210", "name": "xeroderma pigmentosum, type 1", "description": "" }, { "id": "MIM:278700", "resource": "MIM", "url": "https://www.omim.org/entry/278700", "name": "Xeroderma pigmentosum complementation group A", "description": "Xeroderma pigmentosum complementation group A" } ], "evidence": [ { "id": "278700", "database": "MIM", "url": "https://www.omim.org/entry/278700" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136936" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136936" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136936" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "70.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136936" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136936" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "87.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136936" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "77.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136936" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136936" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136936" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "78.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136936" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136936" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136936" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136936", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136936" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P23025", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P23025" } ], "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": 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"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": 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"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", 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"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, 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P23025", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P23025" } ], "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": "" }, { 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"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 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P23025" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P23025", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P23025" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P23025", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P23025" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P23025", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P23025" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P23025", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P23025" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P23025", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P23025" } ], "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": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P23025", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P23025" } ], "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 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"https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "16540648", "url": "https://glygen.org/publication/PubMed/16540648" }, { "database": "iPTMnet", "id": "P23025", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23025" }, { "database": "phospho.ELM", "id": "P23025", "url": "http://phospho.elm.eu.org/byAccession/P23025.html" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "PubMed", "id": "23178497", "url": "https://glygen.org/publication/PubMed/23178497" }, { "database": "PubMed", "id": "30327428", "url": "https://glygen.org/publication/PubMed/30327428" }, { "database": "PubMed", "id": "31779191", "url": "https://glygen.org/publication/PubMed/31779191" } ], "site_lbl": "Ser196" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.", "journal": "Hum. Mutat.", "date": "1999", "authors": "States J.C., Thompson L.H., Cleaver J.E., Richardson A.S.", "evidence": [ { "database": "UniProtKB", "id": "P23025", "url": "https://www.uniprot.org/uniprot/P23025" } ], "reference": [ { "type": "PubMed", "id": "10447254", "url": "https://glygen.org/publication/PubMed/10447254" } ] }, { "title": "Protein complexes in nucleotide excision repair.", "journal": "Mutation research", "date": "1999", "authors": "Araujo SJ, Wood RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "10526214", "url": "https://glygen.org/publication/PubMed/10526214" } ] }, { "title": "Interactions of human nucleotide excision repair protein XPA with DNA and RPA70 Delta C327: chemical shift mapping and 15N NMR relaxation studies.", "journal": "Biochemistry", "date": "1999", "authors": "Kennedy M.A., Buchko G.W., Wold M.S., Daughdrill G.W., Gochin M., Isern N.G., Lingbeck J.M., Lowry D.F., Spicer L.D., Sudha Rao B.K., Taylor J.-S., de Lorimier R.", "evidence": [ { "database": "UniProtKB", "id": "P23025", "url": "https://www.uniprot.org/uniprot/P23025" } ], "reference": [ { "type": "PubMed", "id": "10563794", "url": "https://glygen.org/publication/PubMed/10563794" } ] }, { "title": "The xeroderma pigmentosum group C protein complex XPC-HR23B plays an important role in the recruitment of transcription factor IIH to damaged DNA.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Yokoi M, Masutani C, Maekawa T, Sugasawa K, Ohkuma Y, Hanaoka F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "10734143", "url": "https://glygen.org/publication/PubMed/10734143" } ] }, { "title": "XAB2, a novel tetratricopeptide repeat protein involved in transcription-coupled DNA repair and transcription.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Nakatsu Y, Asahina H, Citterio E, Rademakers S, Vermeulen W, Kamiuchi S, Yeo JP, Khaw MC, Saijo M, Kodo N, Matsuda T, Hoeijmakers JH, Tanaka K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6781823", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6781823" } ], "reference": [ { "type": "PubMed", "id": "10944529", "url": "https://glygen.org/publication/PubMed/10944529" } ] }, { "title": "Molecular structure of human TFIIH.", "journal": "Cell", "date": "2000", "authors": "Schultz P, Fribourg S, Poterszman A, Mallouh V, Moras D, Egly JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "11007478", "url": "https://glygen.org/publication/PubMed/11007478" } ] }, { "title": "Novel functional interactions between nucleotide excision DNA repair proteins influencing the enzymatic activities of TFIIH, XPG, and ERCC1-XPF.", "journal": "Biochemistry", "date": "2001", "authors": "Winkler GS, Sugasawa K, Eker AP, de Laat WL, Hoeijmakers JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "11141066", "url": "https://glygen.org/publication/PubMed/11141066" } ] }, { "title": "Damaged DNA-binding protein DDB stimulates the excision of cyclobutane pyrimidine dimers in vitro in concert with XPA and replication protein A.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Wakasugi M, Shimizu M, Morioka H, Linn S, Nikaido O, Matsunaga T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "11278856", "url": "https://glygen.org/publication/PubMed/11278856" } ] }, { "title": "Sequential assembly of the nucleotide excision repair factors in vivo.", "journal": "Molecular cell", "date": "2001", "authors": "Volker M, Mone MJ, Karmakar P, van Hoffen A, Schul W, Vermeulen W, Hoeijmakers JH, van Driel R, van Zeeland AA, Mullenders LH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "11511374", "url": "https://glygen.org/publication/PubMed/11511374" } ] }, { "title": "Transcription-coupled and DNA damage-dependent ubiquitination of RNA polymerase II in vitro.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Lee KB, Wang D, Lippard SJ, Sharp PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6781823", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6781823" } ], "reference": [ { "type": "PubMed", "id": "11904382", "url": "https://glygen.org/publication/PubMed/11904382" } ] }, { "title": "p52 Mediates XPB function within the transcription/repair factor TFIIH.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Jawhari A, Laine JP, Dubaele S, Lamour V, Poterszman A, Coin F, Moras D, Egly JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "12080057", "url": "https://glygen.org/publication/PubMed/12080057" } ] }, { "title": "Transcription-coupled nucleotide excision repair as a determinant of cisplatin sensitivity of human cells.", "journal": "Cancer research", "date": "2002", "authors": "Furuta T, Ueda T, Aune G, Sarasin A, Kraemer KH, Pommier Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-6781823", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6781823" } ], "reference": [ { "type": "PubMed", "id": "12208738", "url": "https://glygen.org/publication/PubMed/12208738" } ] }, { "title": "Chromosomal protein HMGN1 enhances the rate of DNA repair in chromatin.", "journal": "The EMBO journal", "date": "2003", "authors": "Birger Y, West KL, Postnikov YV, Lim JH, Furusawa T, Wagner JP, Laufer CS, Kraemer KH, Bustin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6781823", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6781823" } ], "reference": [ { "type": "PubMed", "id": "12660172", "url": "https://glygen.org/publication/PubMed/12660172" } ] }, { "title": "The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage.", "journal": "Cell", "date": "2003", "authors": "Groisman R, Polanowska J, Kuraoka I, Sawada J, Saijo M, Drapkin R, Kisselev AF, Tanaka K, Nakatani Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-6781823", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6781823" } ], "reference": [ { "type": "PubMed", "id": "12732143", "url": "https://glygen.org/publication/PubMed/12732143" } ] }, { "title": "Molecular basis of group A Xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.", "journal": "Hum. Genet.", "date": "1992", "authors": "Satokata I, Tanaka K, Okada Y", "evidence": [ { "database": "UniProtKB", "id": "P23025", "url": "https://www.uniprot.org/uniprot/P23025" } ], "reference": [ { "type": "PubMed", "id": "1339397", "url": "https://glygen.org/publication/PubMed/1339397" } ] }, { "title": "Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A Xeroderma pigmentosum.", "journal": "Mutat. Res.", "date": "1992", "authors": "Satokata I, Tanaka K, Yuba S, Okada Y", "evidence": [ { "database": "UniProtKB", "id": "P23025", "url": "https://www.uniprot.org/uniprot/P23025" } ], "reference": [ { "type": "PubMed", "id": "1372103", "url": "https://glygen.org/publication/PubMed/1372103" } ] }, { "title": "The comings and goings of nucleotide excision repair factors on damaged DNA.", "journal": "The EMBO journal", "date": "2003", "authors": "Riedl T, Hanaoka F, Egly JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "14517266", "url": "https://glygen.org/publication/PubMed/14517266" } ] }, { "title": "A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.", "journal": "Nature genetics", "date": "2004", "authors": "Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "15220921", "url": "https://glygen.org/publication/PubMed/15220921" } ] }, { "title": "The spacer region of XPG mediates recruitment to nucleotide excision repair complexes and determines substrate specificity.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Dunand-Sauthier I, Hohl M, Thorel F, Jaquier-Gubler P, Clarkson SG, Scharer OD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696395", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696395" } ], "reference": [ { "type": "PubMed", "id": "15590680", "url": "https://glygen.org/publication/PubMed/15590680" } ] }, { "title": "Mutational analysis of the structure and function of the Xeroderma pigmentosum group A complementing protein. 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