{ "uniprot_canonical_ac": "O43918-1", "uniprot_ac": "O43918", "uniprot_id": "AIRE_HUMAN", "mass": { "chemical_mass": 57727.0, "monoisotopic_mass": 57727.0 }, "refseq": { "ac": "NP_000374", "name": "autoimmune regulator", "summary": "This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374" }, "gene_names": [ { "name": "AIRE", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43918", "id": "O43918" }, { "name": "AIRE1; APECED; APS1; APSI; PGA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374", "id": "NP_000374" }, { "name": "AIRE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374", "id": "NP_000374" }, { "name": "APECED", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43918", "id": "O43918" } ], "protein_names": [ { "name": "Autoimmune regulator", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43918" }, { "name": "APECED protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43918" }, { "name": "Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43918" }, { "name": "autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374", "id": "NP_000374" }, { "name": "autoimmune regulator", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374", "id": "NP_000374" } ], "function": [ { "annotation": "A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374" }, { "database": "PubMed", "id": "37909333", "url": "https://glygen.org/publication/PubMed/37909333" } ] }, { "annotation": "AIRE illuminates the feature of medullary thymic epithelial cells in thymic carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_000374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374" }, { "database": "PubMed", "id": "36912123", "url": "https://glygen.org/publication/PubMed/36912123" } ] }, { "annotation": "Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374" }, { "database": "PubMed", "id": "36902438", "url": "https://glygen.org/publication/PubMed/36902438" } ] }, { "annotation": "Mutations of AIRE lead to the failure to eliminate autoreactive T cells, which can lead to clinical autoimmune syndromes. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374" }, { "database": "PubMed", "id": "21102544", "url": "https://glygen.org/publication/PubMed/21102544" } ] }, { "annotation": "The promoter methylations of the autoimmune regulator (AIRE) gene and matrix metalloproteinase-3 (MMP-3) gene may have a role in gestational diabetes mellitus.", "evidence": [ { "database": "RefSeq", "id": "NP_000374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374" }, { "database": "PubMed", "id": "36808352", "url": "https://glygen.org/publication/PubMed/36808352" } ] }, { "annotation": "This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_000374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374" } ] }, { "annotation": "Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA) (PubMed:26084028). Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Mainly expressed by medullary thymic epithelial cells (mTECs), induces the expression of thousands of tissue-restricted proteins, which are presented on major histocompatibility complex class I (MHC-I) and MHC-II molecules to developing T-cells percolating through the thymic medulla (PubMed:26084028). Also induces self-tolerance through other mechanisms such as the regulation of the mTEC differentiation program. Controls the medullary accumulation of thymic dendritic cells and the development of regulatory T-cell through the regulation of XCL1 expression. Regulates the production of CCR4 and CCR7 ligands in medullary thymic epithelial cells and alters the coordinated maturation and migration of thymocytes. In thimic B-cells, allows the presentation of licensing-dependent endogenous self-anitgen for negative selection. In secondary lymphoid organs, induces functional inactivation of CD4(+) T-cells. Expressed by a distinct bone marrow-derived population, induces self-tolerance through a mechanism that does not require regulatory T-cells and is resitant to innate inflammatory stimuli (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918#function" }, { "database": "UniProtKB", "id": "Q9Z0E3", "url": "https://www.uniprot.org/uniprot/Q9Z0E3#function" }, { "database": "PubMed", "id": "26084028", "url": "https://glygen.org/publication/PubMed/26084028" }, { "database": "PubMed", "id": "26972725", "url": "https://glygen.org/publication/PubMed/26972725" }, { "database": "PubMed", "id": "18292755", "url": "https://glygen.org/publication/PubMed/18292755" }, { "database": "PubMed", "id": "19302042", "url": "https://glygen.org/publication/PubMed/19302042" }, { "database": "PubMed", "id": "11274163", "url": "https://glygen.org/publication/PubMed/11274163" } ] } ], "disease": [ { "disease_id": "DOID:0050167", "recommended_name": { "id": "DOID:0050167", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050167", "name": "autoimmune polyendocrine syndrome type 1", "description": "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs." }, "synonyms": [ { "id": "DOID:0050167", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050167", "name": "Autoimmune Polyglandular Syndrome I", "description": "" }, { "id": "DOID:0050167", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050167", "name": "Whitaker syndrome", "description": "" }, { "id": "DOID:0050167", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050167", "name": "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyendocrine syndrome type 1", "description": "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "AIRE autoimmune polyendocrinopathy", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "APECED syndrome", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "APS type 1", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "APS1", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "MEDAC syndrome", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "Whitaker syndrom", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "aire autoimmune polyendocrinopathy", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyendocrine syndrome type 1", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyendocrinopathy caused by mutation in AIRE", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyendocrinopathy caused by mutation in aire", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyglandular syndrome I", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyglandular syndrome type 1", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "ham syndrome", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "multiple endocrine deficiency-Addison disease-candidiasis syndrome", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "polyglandular autoimmune syndrome type 1", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "APS 1", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "PGA 1", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "Whitaker syndrome", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyendocrinopathy syndrome type 1", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyendocrinopathy syndrome, type I, autosomal dominant", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyendocrinopathy type 1", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "autoimmune polyglandular syndrome, type 1", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "polyglandular autoimmune syndrome, type 1", "description": "" }, { "id": "MONDO:0009411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009411", "name": "polyglandular deficiency syndrome, Persian-Jewish type", "description": "" }, { "id": "MIM:240300", "resource": "MIM", "url": "https://www.omim.org/entry/240300", "name": "Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia", "description": "Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia" } ], "evidence": [ { "id": "240300", "database": "MIM", "url": "https://www.omim.org/entry/240300" } ] }, { "disease_id": "DOID:417", "recommended_name": { "id": "DOID:417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:417", "name": "autoimmune disease", "description": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues." }, "synonyms": [ { "id": "DOID:417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:417", "name": "hypersensitivity reaction type II disease", "description": "" }, { "id": "DOID:417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:417", "name": "autoimmune hypersensitivity disease", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disease", "description": "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)." }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disease", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disease or disorder", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disorder", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "disease, autoimmune", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune hypersensitivity disease", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "hypersensitivity reaction type II disease", "description": "" } ], "evidence": [ { "id": "109100", "database": "MIM", "url": "https://www.omim.org/entry/109100" } ] } ], "snv": [ { "evidence": [ { "id": "O43918", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43918" } ], "glycoeffect": [], "start_pos": 237, "end_pos": 237, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "21", "chr_pos": "44289713", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E237", "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": "" } ] }, { "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" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] }, { "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 28, "end_pos": 29, "sequence_org": "LL", "sequence_mut": "PP", "comment": "Loss of doted nuclear location, forms nuclear smears. Loss of transactivation activity on target genes transcription.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "26084028", "url": "https://glygen.org/publication/PubMed/26084028" } ] }, { "start_pos": 295, "end_pos": 295, "sequence_org": "N", "sequence_mut": "A", "comment": "Abolishes interaction with histone H3.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "19293276", "url": "https://glygen.org/publication/PubMed/19293276" } ] }, { "start_pos": 297, "end_pos": 297, "sequence_org": "D", "sequence_mut": "A", "comment": "Strongly reduces interaction with unmethylated histone H3 and abolishes interaction with histone H3 trimethylated at 'Lys-4'. No effect on doted nuclear localization. Dominant-negative effect on target gene transcription.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "26084028", "url": "https://glygen.org/publication/PubMed/26084028" }, { "database": "PubMed", "id": "18292755", "url": "https://glygen.org/publication/PubMed/18292755" } ] }, { "start_pos": 298, "end_pos": 298, "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces interaction with histone H3.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "19293276", "url": "https://glygen.org/publication/PubMed/19293276" } ] }, { "start_pos": 302, "end_pos": 302, "sequence_org": "C", "sequence_mut": "P", "comment": "Reduces transcriptional activation.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "11274163", "url": "https://glygen.org/publication/PubMed/11274163" } ] }, { "start_pos": 303, "end_pos": 303, "sequence_org": "R", "sequence_mut": "P", "comment": "Alters protein folding and abolishes interaction with histone H3. No effect on doted nuclear localization. Dominant-negative effect on target gene transcription.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "26084028", "url": "https://glygen.org/publication/PubMed/26084028" }, { "database": "PubMed", "id": "19293276", "url": "https://glygen.org/publication/PubMed/19293276" } ] }, { "start_pos": 304, "end_pos": 304, "sequence_org": "D", "sequence_mut": "A", "comment": "Strongly reduces interaction with histone H3.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "19293276", "url": "https://glygen.org/publication/PubMed/19293276" } ] }, { "start_pos": 307, "end_pos": 307, "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces interaction with histone H3.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "19293276", "url": "https://glygen.org/publication/PubMed/19293276" } ] }, { "start_pos": 312, "end_pos": 312, "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes interaction with histone H3.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "18292755", "url": "https://glygen.org/publication/PubMed/18292755" } ] }, { "start_pos": 312, "end_pos": 312, "sequence_org": "D", "sequence_mut": "N", "comment": "No effect on doted nuclear localization. Dominant-negative effect on target gene transcription.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "26084028", "url": "https://glygen.org/publication/PubMed/26084028" } ] }, { "start_pos": 437, "end_pos": 437, "sequence_org": "C", "sequence_mut": "P", "comment": "Reduces transcription activation.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "11274163", "url": "https://glygen.org/publication/PubMed/11274163" } ] }, { "start_pos": 446, "end_pos": 446, "sequence_org": "C", "sequence_mut": "G", "comment": "Dominant-negative effect on regulation of target gene transcription.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "26084028", "url": "https://glygen.org/publication/PubMed/26084028" } ] }, { "start_pos": 471, "end_pos": 471, "sequence_org": "R", "sequence_mut": "C", "comment": "No effect on regulation of target gene transcription.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "26084028", "url": "https://glygen.org/publication/PubMed/26084028" } ] }, { "start_pos": 97, "end_pos": 97, "sequence_org": "L", "sequence_mut": "P", "comment": "Loss of transactivation activity on target gene transcription; no dominant-negative effect on target gene transcription. Loss of doted nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "26084028", "url": "https://glygen.org/publication/PubMed/26084028" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "53.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "44.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "49.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "69.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "47.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "46.99", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "62.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "44.1", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "45.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "62.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "27.86", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "47.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "43.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43918", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43918" } ], "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": "O43918", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43918" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43918", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43918" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43918", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43918" } ], "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": "O43918", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43918" } ], "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": "O43918", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43918" } ], "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": "O43918", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43918" } ], "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": "O43918", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43918" } ], "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": "O43918", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43918" } ], "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": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43918", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43918" } ], "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": "O43918", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43918" } ], "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": "O43918", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43918" } ], "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": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "common_name": "Human" } ], "gene": [ { "name": "AIRE", "url": "https://www.uniprot.org/uniprot/O43918", "locus": { "chromosome": "21", "start_pos": 44298648, "end_pos": 44285838, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000160224", "url": "https://www.ensembl.org/id/ENSG00000160224" } ] } } ], "crossref": [ { "id": "ENSG00000160224", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160224", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43918", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43918", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd15539", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd15539", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd15540", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd15540", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "AIRE", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIRE", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "326", "url": "https://www.ncbi.nlm.nih.gov/gene/326", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "360", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=360", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43918", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43918*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000770", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000770", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001965", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001965", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004865", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004865", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008087", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008087", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010919", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010919", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011011", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011011", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013083", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013083", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019786", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019786", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019787", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019787", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042580", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042580", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043563", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043563", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:326", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:326", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "109100", "url": "http://www.omim.org/entry/109100", "database": "MIM", "categories": [ "Other" ] }, { "id": "240300", "url": "http://www.omim.org/entry/240300", "database": "MIM", "categories": [ "Other" ] }, { "id": "607358", "url": "http://www.omim.org/entry/607358", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43918", "url": "https://www.nextprot.org/entry/NX_O43918", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "DSQGCYQ", "url": "https://omabrowser.org/oma/group/DSQGCYQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5354929at2759", "url": "http://www.orthodb.org/?query=5354929at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46386", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46386", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46386:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46386:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1XWH", "url": "https://www.rcsb.org/structure/1XWH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2KE1", "url": "https://www.rcsb.org/structure/2KE1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2KFT", "url": "https://www.rcsb.org/structure/2KFT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2LRI", "url": "https://www.rcsb.org/structure/2LRI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00628", "url": "http://pfam.xfam.org/family/PF00628", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01342", "url": "http://pfam.xfam.org/family/PF01342", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03172", "url": "http://pfam.xfam.org/family/PF03172", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43918", "url": "https://pharos.nih.gov/targets/O43918", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43918", "url": "http://purl.obolibrary.org/obo/PR_O43918", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_000374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43918-1", "url": "https://www.uniprot.org/uniprot/O43918-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43918-2", "url": "https://www.uniprot.org/uniprot/O43918-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43918-3", "url": "https://www.uniprot.org/uniprot/O43918-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43918-4", "url": "https://www.uniprot.org/uniprot/O43918-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS", "length": 545, "header": "sp|O43918-1|AIRE_HUMAN Isoform 1 of Autoimmune regulator OS=Homo sapiens OX=9606 GN=AIRE PE=1 SV=1 CANONICAL=O43918-1" }, "isoforms": [ { "isoform_ac": "O43918-1", "url": "", "sequence": { "sequence": "MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS", "length": 545, "header": "sp|O43918-1|AIRE_HUMAN Isoform 1 of Autoimmune regulator OS=Homo sapiens OX=9606 GN=AIRE PE=1 SV=1 CANONICAL=O43918-1" }, "locus": { "chromosome": "21", "start_pos": 44297724, "end_pos": 44286007, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000291582.6", "url": "https://www.ensembl.org/id/ENST00000291582.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000291582.5", "url": "https://www.ensembl.org/id/ENSP00000291582.5" } ] } }, { "isoform_ac": "O43918-2", "url": "", "sequence": { "sequence": "MWLVYSSGAPGTQQPARNRVFFPIGMAPGGVCWRPDGWGTGGQGRISGPGSMGAGQRLGSSGTQRCCWGSCFGKEVALRRVLHPSQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS", "length": 338, "header": "sp|O43918-2|AIRE_HUMAN Isoform 2 of Autoimmune regulator OS=Homo sapiens OX=9606 GN=AIRE PE=1 SV=1 CANONICAL=O43918-1" }, "locus": {} }, { "isoform_ac": "O43918-3", "url": "", "sequence": { "sequence": "MWLVYSSGAPGTQQPARNRVFFPIGMAPGGVCWRPDGWGTGGQGRISGPGSMGAGQRLGSSGTQRCCWGSCFGKEVALRRVLHPSQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEPRCQGWTPRPCTPYCVWVLRVSRTWLLVRVAGCAEMVRTCCGVLTAPLPSTGAATSQPAPPGPGRACAADPAQET", "length": 244, "header": "sp|O43918-3|AIRE_HUMAN Isoform 3 of Autoimmune regulator OS=Homo sapiens OX=9606 GN=AIRE PE=1 SV=1 CANONICAL=O43918-1" }, "locus": {} }, { "isoform_ac": "O43918-4", "url": "", "sequence": { "sequence": "MWLVYSSGAPGTQQPARNRVFFPIGMAPGGVCWRPDGWGTGGQGRISGPGSMGAGQRLGSSGTQRCCWGSCFGKEVALRRVLHPSPVCMGVSCLCQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS", "length": 348, "header": "sp|O43918-4|AIRE_HUMAN Isoform 4 of Autoimmune regulator OS=Homo sapiens OX=9606 GN=AIRE PE=1 SV=1 CANONICAL=O43918-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 156, "end_pos": 156, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43918" }, { "database": "PubMed", "id": "17997173", "url": "https://glygen.org/publication/PubMed/17997173" } ], "site_lbl": "Ser156" }, { "start_pos": 68, "end_pos": 68, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43918" }, { "database": "PubMed", "id": "17997173", "url": "https://glygen.org/publication/PubMed/17997173" } ], "site_lbl": "Thr68" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.", "journal": "American journal of human genetics", "date": "2000", "authors": "Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "10677297", "url": "https://glygen.org/publication/PubMed/10677297" } ] }, { "title": "Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Pitkanen J, Vahamurto P, Krohn K, Peterson P", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "11274163", "url": "https://glygen.org/publication/PubMed/11274163" } ] }, { "title": "Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.", "journal": "European journal of endocrinology", "date": "2001", "authors": "Saugier-Veber P, Drouot N, Wolf LM, Kuhn JM, Frebourg T, Lefebvre H", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "11275943", "url": "https://glygen.org/publication/PubMed/11275943" } ] }, { "title": "APECED mutations in the autoimmune regulator (AIRE) gene.", "journal": "Human mutation", "date": "2001", "authors": "Heino M, Peterson P, Kudoh J, Shimizu N, Antonarakis SE, Scott HS, Krohn K", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "11524731", "url": "https://glygen.org/publication/PubMed/11524731" } ] }, { "title": "Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.", "journal": "Human mutation", "date": "2001", "authors": "Cihakova D, Trebusak K, Heino M, Fadeyev V, Tiulpakov A, Battelino T, Tar A, Halasz Z, Blumel P, Tawfik S, Krohn K, Lebl J, Peterson P", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "11524733", "url": "https://glygen.org/publication/PubMed/11524733" } ] }, { "title": "The autoimmune regulator (AIRE) is a DNA-binding protein.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kumar PG, Laloraya M, Wang CY, Ruan QG, Davoodi-Semiromi A, Kao KJ, She JX", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "11533054", "url": "https://glygen.org/publication/PubMed/11533054" } ] }, { "title": "A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Cetani F, Barbesino G, Borsari S, Pardi E, Cianferotti L, Pinchera A, Marcocci C", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "11600535", "url": "https://glygen.org/publication/PubMed/11600535" } ] }, { "title": "Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Meloni A, Perniola R, Faa V, Corvaglia E, Cao A, Rosatelli MC", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "11836330", "url": "https://glygen.org/publication/PubMed/11836330" } ] }, { "title": "AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kampe O, Rorsman F, Peltonen L, Ulmanen I, Partanen J", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "12050215", "url": "https://glygen.org/publication/PubMed/12050215" } ] }, { "title": "Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations.", "journal": "Clinical immunology (Orlando, Fla.)", "date": "2002", "authors": "Kogawa K, Kudoh J, Nagafuchi S, Ohga S, Katsuta H, Ishibashi H, Harada M, Hara T, Shimizu N", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "12173302", "url": "https://glygen.org/publication/PubMed/12173302" } ] }, { "title": "A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan.", "journal": "Endocrine journal", "date": "2002", "authors": "Sato K, Nakajima K, Imamura H, Deguchi T, Horinouchi S, Yamazaki K, Yamada E, Kanaji Y, Takano K", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "12625412", "url": "https://glygen.org/publication/PubMed/12625412" } ] }, { "title": "APECED-causing mutations in AIRE reveal the functional domains of the protein.", "journal": "Human mutation", "date": "2004", "authors": "Halonen M, Kangas H, Ruppell T, Ilmarinen T, Ollila J, Kolmer M, Vihinen M, Palvimo J, Saarela J, Ulmanen I, Eskelin P", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "14974083", "url": "https://glygen.org/publication/PubMed/14974083" } ] }, { "title": "NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Bottomley MJ, Stier G, Pennacchini D, Legube G, Simon B, Akhtar A, Sattler M, Musco G", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "15649886", "url": "https://glygen.org/publication/PubMed/15649886" } ] }, { "title": "Two novel mutations of the AIRE protein affecting its homodimerization properties.", "journal": "Human mutation", "date": "2005", "authors": "Meloni A, Fiorillo E, Corda D, Perniola R, Cao A, Rosatelli MC", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "15712268", "url": "https://glygen.org/publication/PubMed/15712268" } ] }, { "title": "Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.", "journal": "Human mutation", "date": "2005", "authors": "Ilmarinen T, Eskelin P, Halonen M, Ruppell T, Kilpikari R, Torres GD, Kangas H, Ulmanen I", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "16114041", "url": "https://glygen.org/publication/PubMed/16114041" } ] }, { "title": "DNA-PK contributes to the phosphorylation of AIRE: importance in transcriptional activity.", "journal": "Biochimica et biophysica acta", "date": "2008", "authors": "Liiv I, Rebane A, Org T, Saare M, Maslovskaja J, Kisand K, Juronen E, Valmu L, Bottomley MJ, Kalkkinen N, Peterson P", "evidence": [ { "database": "iPTMnet", "id": "O43918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43918" } ], "reference": [ { "type": "PubMed", "id": "17997173", "url": "https://glygen.org/publication/PubMed/17997173" } ] }, { "title": "The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression.", "journal": "EMBO reports", "date": "2008", "authors": "Org T, Chignola F, Hetenyi C, Gaetani M, Rebane A, Liiv I, Maran U, Mollica L, Bottomley MJ, Musco G, Peterson P", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "18292755", "url": "https://glygen.org/publication/PubMed/18292755" } ] }, { "title": "The solution structure of the first PHD finger of autoimmune regulator in complex with non-modified histone H3 tail reveals the antagonistic role of H3R2 methylation.", "journal": "Nucleic acids research", "date": "2009", "authors": "Chignola F, Gaetani M, Rebane A, Org T, Mollica L, Zucchelli C, Spitaleri A, Mannella V, Peterson P, Musco G", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "19293276", "url": "https://glygen.org/publication/PubMed/19293276" } ] }, { "title": "Aire.", "journal": "Annual review of immunology", "date": "2009", "authors": "Mathis Diane, Benoist Christophe", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "19302042", "url": "https://glygen.org/publication/PubMed/19302042" } ] }, { "title": "Structure and site-specific recognition of histone H3 by the PHD finger of human autoimmune regulator.", "journal": "Structure (London, England : 1993)", "date": "2009", "authors": "Chakravarty S, Zeng L, Zhou MM", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "19446523", "url": "https://glygen.org/publication/PubMed/19446523" } ] }, { "title": "The role of AIRE in human autoimmune disease.", "journal": "Nature reviews. Endocrinology", "date": "2011", "authors": "Akirav EM, Ruddle NH, Herold KC", "evidence": [ { "database": "RefSeq", "id": "NP_000374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374" } ], "reference": [ { "type": "PubMed", "id": "21102544", "url": "https://glygen.org/publication/PubMed/21102544" } ] }, { "title": "Extrathymic Aire-expressing cells are a distinct bone marrow-derived population that induce functional inactivation of CD4[?] T cells.", "journal": "Immunity", "date": "2013", "authors": "Gardner James M, Metzger Todd C, McMahon Eileen J, Au-Yeung Byron B, Krawisz Anna K, Lu Wen, Price Jeffrey D, Johannes Kellsey P, Satpathy Ansuman T, Murphy Kenneth M, Tarbell Kristin V, Weiss Arthur, Anderson Mark S", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "23993652", "url": "https://glygen.org/publication/PubMed/23993652" } ] }, { "title": "Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.", "journal": "Immunity", "date": "2015", "authors": "Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, Kemp EH, Fiskerstrand T, Viken MK, Weetman AP, Fleishman SJ, Banka S, Newman WG, Sewell WA, Sozaeva LS, Zayats T, Haugarvoll K, Orlova EM, Haavik J, Johansson S, Knappskog PM, Lovas K, Wolff AS, Abramson J, Husebye ES", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "26084028", "url": "https://glygen.org/publication/PubMed/26084028" } ] }, { "title": "AIRE expands: new roles in immune tolerance and beyond.", "journal": "Nature reviews. Immunology", "date": "2016-04", "authors": "Anderson Mark S, Su Maureen A", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "26972725", "url": "https://glygen.org/publication/PubMed/26972725" } ] }, { "title": "AIRE-deficient patients harbor unique high-affinity disease-ameliorating autoantibodies.", "journal": "Cell", "date": "2016", "authors": "Meyer Steffen, Woodward Martin, Hertel Christina, Vlaicu Philip, Haque Yasmin, K\u00e4rner Jaanika, Macagno Annalisa, Onuoha Shimobi C, Fishman Dmytro, Peterson Hedi, Metsk\u00fcla Kaja, Uibo Raivo, J\u00e4ntti Kirsi, Hokynar Kati, Wolff Anette S B, , Krohn Kai, Ranki Annamari, Peterson P\u00e4rt, Kisand Kai, Hayday Adrian", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "27426947", "url": "https://glygen.org/publication/PubMed/27426947" } ] }, { "title": "The promoter methylations of the autoimmune regulator (AIRE) gene and matrix metalloproteinase-3 (MMP-3) gene may have a role in gestational diabetes mellitus.", "journal": "European review for medical and pharmacological sciences", "date": "2023-02", "authors": "Coban U, Celik Z B", "evidence": [ { "database": "RefSeq", "id": "NP_000374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374" } ], "reference": [ { "type": "PubMed", "id": "36808352", "url": "https://glygen.org/publication/PubMed/36808352" } ] }, { "title": "Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study.", "journal": "International journal of molecular sciences", "date": "2023", "authors": "Abdel Ghafar MT, Elshora OA, Allam AA, Mashaal RG, Hamous SAA, Abd El-Khalik SR, Abd-Ellatif RN, Mariah RA, Eissa R, Mwafy M, Shalaby RE, Nasif E, Elkholy RA", "evidence": [ { "database": "RefSeq", "id": "NP_000374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374" } ], "reference": [ { "type": "PubMed", "id": "36902438", "url": "https://glygen.org/publication/PubMed/36902438" } ] }, { "title": "AIRE illuminates the feature of medullary thymic epithelial cells in thymic carcinoma.", "journal": "Cancer medicine", "date": "2023-03-13", "authors": "Matsumoto Minoru, Ohmura Takuya, Hanibuchi Yuto, Ichimura-Shimizu Mayuko, Saijo Yasuyo, Ogawa Hirohisa, Miyazawa Ryuichiro, Morimoto Junko, Tsuneyama Koichi, Matsumoto Mitsuru, Oya Takeshi", "evidence": [ { "database": "RefSeq", "id": "NP_000374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374" } ], "reference": [ { "type": "PubMed", "id": "36912123", "url": "https://glygen.org/publication/PubMed/36912123" } ] }, { "title": "A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.", "journal": "The Journal of clinical investigation", "date": "2023-11-01", "authors": "Oftedal Bergithe Eikeland, Berger Amund Holte, Bruserud \u00d8yvind, Goldfarb Yael, Sulen Andre, Breivik Lars, Hellesen Alexander, Ben-Dor Shifra, Haffner-Krausz Rebecca, Knappskog Per M, Johansson Stefan, Wolff Anette Sb, Bratland Eirik, Abramson Jakub, Husebye Eystein Sverre", "evidence": [ { "database": "RefSeq", "id": "NP_000374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374" } ], "reference": [ { "type": "PubMed", "id": "37909333", "url": "https://glygen.org/publication/PubMed/37909333" } ] }, { "title": "Positional cloning of the APECED gene.", "journal": "Nature genetics", "date": "1997", "authors": "Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "9398839", "url": "https://glygen.org/publication/PubMed/9398839" } ] }, { "title": "An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.", "journal": "Nat. Genet.", "date": "1997", "authors": "author information missing", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "9398840", "url": "https://glygen.org/publication/PubMed/9398840" } ] }, { "title": "Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.", "journal": "Mol. Endocrinol.", "date": "1998", "authors": "Scott H S, Heino M, Peterson P, Mittaz L, Lalioti M D, Betterle C, Cohen A, Seri M, Lerone M, Romeo G, Collin P, Salo M, Metcalfe R, Weetman A, Papasavvas M P, Rossier C, Nagamine K, Kudoh J, Shimizu N, Krohn K J, Antonarakis S E", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "9717837", "url": "https://glygen.org/publication/PubMed/9717837" } ] }, { "title": "Mutation analyses of North American APS-1 patients.", "journal": "Human mutation", "date": "1999", "authors": "Heino M, Scott HS, Chen Q, Peterson P, Maebpaa U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, Maclaren N, Antonarakis SE, Krohn K", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "9888391", "url": "https://glygen.org/publication/PubMed/9888391" } ] }, { "title": "Localization of the APECED protein in distinct nuclear structures.", "journal": "Hum. Mol. Genet.", "date": "1999", "authors": "Bj\u00f6rses P, Pelto-Huikko M, Kaukonen J, Aaltonen J, Peltonen L, Ulmanen I", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "reference": [ { "type": "PubMed", "id": "9931333", "url": "https://glygen.org/publication/PubMed/9931333" } ] } ], "pathway": [ { "id": "hsa:326", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:326", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZV49-1", "protein_name": "Autoimmune regulator", "gene_name": "Aire", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAGGDGMLRRLLRLHRTEIAVAIDSAFPLLHALADHDVVPEDKFQETLRLKEKEGCPQAFHALLSWLLTRDSGAILDFWRVLFKDYNLERYSRLHTILDGFPKDVDLSQPRKGRKPLAGPKASVVPPRPPTKRRALEEPRATPPATLASKSISSPGSHSKAKPPKKPEGNLESQRLPLGNGIQTMAASVQRAVTVSSGDVPGSRGAVEGILIQQVFESGGSKKCIQVGGEFYKPSKFEDPSGNLKNKTRGGSSLKPVIRGKGTQVTIPGRDEQKVSQQCGVPPLPPLPNEPQVHQKNEDECAVCHDGGELICCDGCPRAFHLACLSPPLQEIPSGLWRCSCCLQGRIQQNLSQPEESRPLEPSAETPILLGLRSASEKTRVLSRELPAGSDAAVTYANLLAPPSTAPVLEPSALCPLPSAGAEGQPGPTLSARCGVCGDSTDVLRCAHCAAAFHWRCHFPMAAVRPGTNLRCKSCSAEPTPTPGVPGEAVPTAVRPTPGLAKVGDDSASHDPVLHRDDLESLLNEHSFDGILQWAIQSMSRPLAETPPFSS", "length": 551 }, "evidence": [ { "id": "45922010", "url": "http://www.informatics.jax.org/homology/45922010", "database": "MGI" }, { "id": "O43918", "url": "https://omabrowser.org/oma/group/O43918/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9Z0E3-1", "protein_name": "Autoimmune regulator", "gene_name": "Aire", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAGGDGMLRRLLRLHRTEIAVAIDSAFPLLHALADHDVVPEDKFQETLRLKEKEGCPQAFHALLSWLLTRDSGAILDFWRILFKDYNLERYSRLHSILDGFPKDVDLNQSRKGRKPLAGPKAAVLPPRPPTKRKALEEPRATPPATLASKSVSSPGSHLKTKPPKKPDGNLESQHLPLGNGIQTMAASVQRAVTVASGDVPGTRGAVEGILIQQVFESGRSKKCIQVGGEFYTPNKFEDPSGNLKNKARSGSSLKPVVRAKGAQVTIPGRDEQKVGQQCGVPPLPSLPSEPQVNQKNEDECAVCHDGGELICCDGCPRAFHLACLSPPLQEIPSGLWRCSCCLQGRVQQNLSQPEVSRPPELPAETPILVGLRSASEKTRGPSRELKASSDAAVTYVNLLAPHPAAPLLEPSALCPLLSAGNEGRPGPAPSARCSVCGDGTEVLRCAHCAAAFHWRCHFPTAAARPGTNLRCKSCSADSTPTPGTPGEAVPTSGPRPAPGLAKVGDDSASHDPVLHRDDLESLLNEHSFDGILQWAIQSMSRPLAETPPFSS", "length": 552 }, "evidence": [ { "id": "45922010", "url": "http://www.informatics.jax.org/homology/45922010", "database": "MGI" }, { "id": "O43918", "url": "https://omabrowser.org/oma/group/O43918/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "translation regulator activity", "id": "GO:0045182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045182", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "male germ cell nucleus", "id": "GO:0001673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001673", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "female germ cell nucleus", "id": "GO:0001674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001674", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 12, "go_terms": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "peripheral T cell tolerance induction", "id": "GO:0002458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002458", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "central tolerance induction to self antigen", "id": "GO:0002509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002509", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "negative thymic T cell selection", "id": "GO:0045060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045060", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "thymus epithelium morphogenesis", "id": "GO:0097536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097536", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" }, { "name": "regulation of thymocyte migration", "id": "GO:2000410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000410", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "Phosphorylated. Phosphorylation could trigger oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O43918", "url": "https://www.uniprot.org/uniprot/O43918" }, { "database": "PubMed", "id": "11533054", "url": "https://glygen.org/publication/PubMed/11533054" } ] } ], "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": [ 237 ], "glycation_sites": [], "phosphorylation_sites": [ 68, 156 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": 34 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }