{ "uniprot_canonical_ac": "O00358-1", "uniprot_ac": "O00358", "uniprot_id": "FOXE1_HUMAN", "mass": { "chemical_mass": 38076.0, "monoisotopic_mass": 38076.0 }, "refseq": { "ac": "NP_004464", "name": "forkhead box protein E1", "summary": "This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding 'forkhead' domain. The encoded protein functions as a thyroid transcription factor that plays a role in thyroid morphogenesis. Mutations in this gene are associated with the Bamforth-Lazarus syndrome, and with susceptibility to nonmedullary thyroid cancer-4. [provided by RefSeq, Nov 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464" }, "gene_names": [ { "name": "FOXE1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00358", "id": "O00358" }, { "name": "BAMLAZ; FKHL15; FOXE2; HFKH4; HFKL5; NMTC4; TITF2; TTF-2; TTF2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464", "id": "NP_004464" }, { "name": "FKHL15", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00358", "id": "O00358" }, { "name": "FOXE1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464", "id": "NP_004464" }, { "name": "FOXE2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00358", "id": "O00358" }, { "name": "TITF2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00358", "id": "O00358" }, { "name": "TTF2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00358", "id": "O00358" } ], "protein_names": [ { "name": "Forkhead box protein E1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00358" }, { "name": "Forkhead box protein E2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00358" }, { "name": "Forkhead-related protein FKHL15", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00358" }, { "name": "HFKH4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00358" }, { "name": "HFKL5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00358" }, { "name": "HNF-3/fork head-like protein 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00358" }, { "name": "TTF-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00358" }, { "name": "Thyroid transcription factor 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00358" }, { "name": "forkhead box protein E1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464", "id": "NP_004464" }, { "name": "forkhead, drosophila, homolog-like 15; forkhead box protein E2; HNF-3/fork head-like protein 5; thyroid transcription factor 2; forkhead-related protein FKHL15", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464", "id": "NP_004464" } ], "function": [ { "annotation": "Adipocyte signaling affects thyroid-specific gene expression via down-regulation of TTF-2/FOXE1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464" }, { "database": "PubMed", "id": "36347053", "url": "https://glygen.org/publication/PubMed/36347053" } ] }, { "annotation": "FOXE1 Contributes to the Development of Psoriasis by Regulating WNT5A.", "evidence": [ { "database": "RefSeq", "id": "NP_004464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464" }, { "database": "PubMed", "id": "37394057", "url": "https://glygen.org/publication/PubMed/37394057" } ] }, { "annotation": "The Effect of LL37 Antimicrobial Peptide on FOXE1 and lncRNA PTCSC 2 Genes Expression in Colorectal Cancer (CRC) and Normal Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464" }, { "database": "PubMed", "id": "36308369", "url": "https://glygen.org/publication/PubMed/36308369" } ] }, { "annotation": "The high expression of FOXE1 in colorectal cancer predicts a promising prognosis: a retrospective study. Erratum:[Clin Exp Med. 2023 Aug 19;:. PMID: 37597038]", "evidence": [ { "database": "RefSeq", "id": "NP_004464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464" }, { "database": "PubMed", "id": "37278933", "url": "https://glygen.org/publication/PubMed/37278933" } ] }, { "annotation": "This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding 'forkhead' domain. The encoded protein functions as a thyroid transcription factor that plays a role in thyroid morphogenesis. Mutations in this gene are associated with the Bamforth-Lazarus syndrome, and with susceptibility to nonmedullary thyroid cancer-4. [provided by RefSeq, Nov 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_004464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464" } ] }, { "annotation": "Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression.", "evidence": [ { "database": "UniProtKB", "id": "O00358", "url": "https://www.uniprot.org/uniprot/O00358#function" }, { "database": "PubMed", "id": "24219130", "url": "https://glygen.org/publication/PubMed/24219130" }, { "database": "PubMed", "id": "21177256", "url": "https://glygen.org/publication/PubMed/21177256" }, { "database": "PubMed", "id": "20094846", "url": "https://glygen.org/publication/PubMed/20094846" }, { "database": "PubMed", "id": "12165566", "url": "https://glygen.org/publication/PubMed/12165566" }, { "database": "PubMed", "id": "9697705", "url": "https://glygen.org/publication/PubMed/9697705" }, { "database": "PubMed", "id": "25381600", "url": "https://glygen.org/publication/PubMed/25381600" }, { "database": "PubMed", "id": "20484477", "url": "https://glygen.org/publication/PubMed/20484477" }, { "database": "PubMed", "id": "16882747", "url": "https://glygen.org/publication/PubMed/16882747" } ] } ], "disease": [ { "disease_id": "DOID:0050655", "recommended_name": { "id": "DOID:0050655", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050655", "name": "Bamforth-Lazarus syndrome", "description": "A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22." }, "synonyms": [ { "id": "DOID:0050655", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050655", "name": "HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE", "description": "" }, { "id": "MONDO:0009437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009437", "name": "Bamforth-Lazarus syndrome", "description": "Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." }, { "id": "MONDO:0009437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009437", "name": "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome", "description": "" }, { "id": "MONDO:0009437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009437", "name": "Bamforth syndrome", "description": "" }, { "id": "MONDO:0009437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009437", "name": "Bamforth-Lazarus syndrome", "description": "" }, { "id": "MONDO:0009437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009437", "name": "hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate", "description": "" }, { "id": "MONDO:0009437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009437", "name": "hypothyroidism-cleft palate syndrome", "description": "" }, { "id": "MONDO:0009437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009437", "name": "hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate", "description": "" }, { "id": "MONDO:0009437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009437", "name": "hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate", "description": "" }, { "id": "MIM:241850", "resource": "MIM", "url": "https://www.omim.org/entry/241850", "name": "Bamforth-Lazarus syndrome", "description": "Bamforth-Lazarus syndrome" } ], "evidence": [ { "id": "241850", "database": "MIM", "url": "https://www.omim.org/entry/241850" } ] }, { "disease_id": "MONDO:0014681", "recommended_name": { "id": "MONDO:0014681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014681", "name": "thyroid cancer, nonmedullary, 4", "description": "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene." }, "synonyms": [ { "id": "MONDO:0014681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014681", "name": "FOXE1 thyroid cancer, nonmedullary", "description": "" }, { "id": "MONDO:0014681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014681", "name": "thyroid cancer, nonmedullary caused by mutation in FOXE1", "description": "" }, { "id": "MONDO:0014681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014681", "name": "thyroid cancer, nonmedullary, 4", "description": "" }, { "id": "MONDO:0014681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014681", "name": "thyroid cancer, nonmedullary, type 4", "description": "" }, { "id": "MONDO:0014681", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014681", "name": "NMTC4", "description": "" }, { "id": "MIM:616534", "resource": "MIM", "url": "https://www.omim.org/entry/616534", "name": "Thyroid cancer, non-medullary, 4", "description": "Thyroid cancer, non-medullary, 4" } ], "evidence": [ { "id": "616534", "database": "MIM", "url": "https://www.omim.org/entry/616534" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "47.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178919" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "84.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178919" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "43.81", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000178919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178919" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178919" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "43.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178919" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000178919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178919" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000178919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178919" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "38.93", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000178919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178919" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178919" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178919" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "37.25", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000178919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178919" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "45.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178919" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "41.58", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000178919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178919" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00358", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00358" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00358", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00358" } ], "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": "O00358", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00358" } ], "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00358", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00358" } ], "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": "O00358", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00358" } ], "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": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00358", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00358" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00358", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00358" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O00358", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00358" } ], "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": "" }, 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"5385885at2759", "url": "http://www.orthodb.org/?query=5385885at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11829", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11829", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11829:SF368", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11829:SF368", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00250", "url": "http://pfam.xfam.org/family/PF00250", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00358", "url": "https://pharos.nih.gov/targets/O00358", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00358", "url": "http://purl.obolibrary.org/obo/PR_O00358", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_004464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464", "database": "RefSeq", "categories": [ "Protein" ] }, { 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molecular genetics", "date": "2002", "authors": "Castanet M, Park SM, Smith A, Bost M, Leger J, Lyonnet S, Pelet A, Czernichow P, Chatterjee K, Polak M", "evidence": [ { "database": "UniProtKB", "id": "O00358", "url": "https://www.uniprot.org/uniprot/O00358" } ], "reference": [ { "type": "PubMed", "id": "12165566", "url": "https://glygen.org/publication/PubMed/12165566" } ] }, { "title": "A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2006", "authors": "Baris I, Arisoy AE, Smith A, Agostini M, Mitchell CS, Park SM, Halefoglu AM, Zengin E, Chatterjee VK, Battaloglu E", "evidence": [ { "database": "UniProtKB", "id": "O00358", "url": "https://www.uniprot.org/uniprot/O00358" } ], "reference": [ { "type": "PubMed", "id": "16882747", "url": "https://glygen.org/publication/PubMed/16882747" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O00358", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00358" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis.", "journal": "Biochemical genetics", "date": "2010", "authors": "Kang IN, Musa M, Harun F, Junit SM", "evidence": [ { "database": "UniProtKB", "id": "O00358", "url": "https://www.uniprot.org/uniprot/O00358" } ], "reference": [ { "type": "PubMed", "id": "20094846", "url": "https://glygen.org/publication/PubMed/20094846" } ] }, { "title": "Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2010", "authors": "Castanet M, Mallya U, Agostini M, Schoenmakers E, Mitchell C, Demuth S, Raymond FL, Schwabe J, Gurnell M, Chatterjee VK", "evidence": [ { "database": "UniProtKB", "id": "O00358", "url": "https://www.uniprot.org/uniprot/O00358" } ], "reference": [ { "type": "PubMed", "id": "20484477", "url": "https://glygen.org/publication/PubMed/20484477" } ] }, { "title": "MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1.", "journal": "Human molecular genetics", "date": "2011", "authors": "Venza I, Visalli M, Parrillo L, De Felice M, Teti D, Venza M", "evidence": [ { "database": "UniProtKB", "id": "O00358", "url": "https://www.uniprot.org/uniprot/O00358" } ], "reference": [ { "type": "PubMed", "id": "21177256", "url": "https://glygen.org/publication/PubMed/21177256" } ] }, { "title": "A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression.", "journal": "Thyroid : official journal of the American Thyroid Association", "date": "2014", "authors": "Carre A, Hamza RT, Kariyawasam D, Guillot L, Teissier R, Tron E, Castanet M, Dupuy C, El Kholy M, Polak M", "evidence": [ { "database": "UniProtKB", "id": "O00358", "url": "https://www.uniprot.org/uniprot/O00358" } ], "reference": [ { "type": "PubMed", "id": "24219130", "url": "https://glygen.org/publication/PubMed/24219130" } ] }, { "title": "Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC).", "journal": "Endocrine", "date": "2015", "authors": "Pereira JS, da Silva JG, Tomaz RA, Pinto AE, Bugalho MJ, Leite V, Cavaco BM", "evidence": [ { "database": "UniProtKB", "id": "O00358", "url": "https://www.uniprot.org/uniprot/O00358" } ], "reference": [ { "type": "PubMed", "id": "25381600", "url": "https://glygen.org/publication/PubMed/25381600" } ] }, { "title": "The Effect of LL37 Antimicrobial Peptide on FOXE1 and lncRNA PTCSC 2 Genes Expression in Colorectal Cancer (CRC) and Normal Cells.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2022-10-01", "authors": "Al-Darraji Mustafa Nuhad, Jasim Saade Abdalkareem, Salah Aldeen Omer Dhia Aldeen, Ghasemian Abdolmajid, Rasheed Mohammed", "evidence": [ { "database": "RefSeq", "id": "NP_004464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464" } ], "reference": [ { "type": "PubMed", "id": "36308369", "url": "https://glygen.org/publication/PubMed/36308369" } ] }, { "title": "Adipocyte signaling affects thyroid-specific gene expression via down-regulation of TTF-2/FOXE1.", "journal": "Journal of molecular endocrinology", "date": "2023-01-01", "authors": "Zamboni Michela, Strimpakos Georgios, Poggiogalle Eleonora, Donini Lorenzo M, Civitareale Donato", "evidence": [ { "database": "RefSeq", "id": "NP_004464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464" } ], "reference": [ { "type": "PubMed", "id": "36347053", "url": "https://glygen.org/publication/PubMed/36347053" } ] }, { "title": "The high expression of FOXE1 in colorectal cancer predicts a promising prognosis: a retrospective study.", "journal": "Clinical and experimental medicine", "date": "2023-06-06", "authors": "Liu Xibo, Chen Lirong, Wen Fei, Zheng Shu, Ge Weiting", "evidence": [ { "database": "RefSeq", "id": "NP_004464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464" } ], "reference": [ { "type": "PubMed", "id": "37278933", "url": "https://glygen.org/publication/PubMed/37278933" } ] }, { "title": "FOXE1 Contributes to the Development of Psoriasis by Regulating WNT5A.", "journal": "The Journal of investigative dermatology", "date": "2023-12", "authors": "Liu Meng, Zhang Guanfei, Wang Ziyang, Liu Xinyi, He Ke, Luo Ruiting, Duan Qiqi, Bai Ruimin, Wang Yuqian, Du Wenqian, Zheng Yan, Shao Yongping", "evidence": [ { "database": "RefSeq", "id": "NP_004464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004464" } ], "reference": [ { "type": "PubMed", "id": "37394057", "url": "https://glygen.org/publication/PubMed/37394057" } ] }, { "title": "The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern.", "journal": "DNA Cell Biol.", "date": "1997", "authors": "Wiese S, Emmerich D, Schroder B, Murphy DB, Grzeschik KH, Van Kessel AG, Thies U", "evidence": [ { "database": "UniProtKB", "id": "O00358", "url": "https://www.uniprot.org/uniprot/O00358" } ], "reference": [ { "type": "PubMed", "id": "9052737", "url": "https://glygen.org/publication/PubMed/9052737" } ] }, { "title": "FKHL15, a new human member of the forkhead gene family located on chromosome 9q22.", "journal": "Genomics", "date": "1997", "authors": "Chadwick BP, Obermayr F, Frischauf AM", "evidence": [ { "database": "UniProtKB", "id": "O00358", "url": "https://www.uniprot.org/uniprot/O00358" } ], "reference": [ { "type": "PubMed", "id": "9169137", "url": "https://glygen.org/publication/PubMed/9169137" } ] }, { "title": "Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia.", "journal": "Nature genetics", "date": "1998", "authors": "Clifton-Bligh RJ, Wentworth JM, Heinz P, Crisp MS, John R, Lazarus JH, Ludgate M, Chatterjee VK", "evidence": [ { "database": "UniProtKB", "id": "O00358", "url": "https://www.uniprot.org/uniprot/O00358" } ], "reference": [ { "type": "PubMed", "id": "9697705", "url": "https://glygen.org/publication/PubMed/9697705" } ] } ], "pathway": [ { "id": "hsa:2304", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2304", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A6IJB5-1", "protein_name": "Forkhead box E1", "gene_name": "Foxe1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTAESAPPPPPQPEALAAVKEERGEAAAGAGVPAEVAGRGAGGRRRKRPLQRGKPPYSYIALIAMAIAHAPERRLTLGGIYKFITERFPFYRDNPKKWQNSIRHNLTLNDCFLKIPREAGRPGKGNYWALDPNAEDMFESGSFLRRRKRFKRSDLSTYPAYMHDAAAAAAAAAAAIFPGAVPAARPAYPGAVYAGYAPPLAAPPPVYYPAASPGPCRVFGLVPERPLSPDLGPAPSAAGGSCAFAAAAGAPGTGSFQPAVCTGARPVNPAAYAAAYAGPDGAYPQGASSALFAAAAGRLAGPTSPTAGGGSGGVEATVDFYGRTSPGQFGAALGPCYNPSGQLGAGGGGAYHSRHATAYPGAVDRFVSAM", "length": 370 }, "evidence": [ { "id": "45920784", "url": "http://www.informatics.jax.org/homology/45920784", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8R2I0-1", "protein_name": "Forkhead box protein E1", "gene_name": "Foxe1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTAESAPPPPPQPETLAAVKEERGEAAAAGAGVPAEAAGRGAGGRRRKRPLQRGKPPYSYIALIAMAIAHAPERRLTLGGIYKFITERFPFYRDNPKKWQNSIRHNLTLNDCFLKIPREAGRPGKGNYWALDPNAEDMFESGSFLRRRKRFKRSDLSTYPAYMHDAAAAAAAAAAAIFPGAVPAARPAYPGAVYAGYAPPLAAPPPVYYPAASPGPCRVFGLVPERPLSPDLGPAPSAAGGSCAFAAAAGAAGTGSFQPAVCTGARPVNPAAYAAAYAGPDGAYPQGASSALFAAAAGRLAGPASPPAGGGSGGVEATVDFYGRTSPGQFGAALGPCYNPGGQLGAGGGGAYHSRHATAYPGAVDRFVSAM", "length": 371 }, "evidence": [ { "id": "45920784", "url": "http://www.informatics.jax.org/homology/45920784", "database": "MGI" }, { "id": "O00358", "url": "https://omabrowser.org/oma/group/O00358/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 16, "go_terms": [ { "name": "thyroid gland development", "id": "GO:0030878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030878", "evidence": [ { "database": "UniProtKB", "id": "O00358", "url": "https://www.uniprot.org/uniprot/O00358" } ], "pmid": "" }, { "name": "cranial skeletal system 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