{ "uniprot_canonical_ac": "O43623-1", "uniprot_ac": "O43623", "uniprot_id": "SNAI2_HUMAN", "mass": { "chemical_mass": 29986.0, "monoisotopic_mass": 29986.0 }, "refseq": { "ac": "NP_003059", "name": "zinc finger protein SNAI2", "summary": "This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003059" }, "gene_names": [ { "name": "SNAI2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43623", "id": "O43623" }, { "name": "SLUG; SLUGH; SLUGH1; SNAIL2; WS2D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003059", "id": "NP_003059" }, { "name": "SLUGH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43623", "id": "O43623" }, { "name": "SLUG", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43623", "id": "O43623" }, { "name": "SNAI2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003059", "id": "NP_003059" } ], "protein_names": [ { "name": "Zinc finger protein SNAI2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43623" }, { "name": "Neural crest transcription factor Slug", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43623" }, { "name": "Protein snail homolog 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43623" }, { "name": "slug (chicken homolog), zinc finger protein; neural crest transcription factor SLUG; protein snail homolog 2; snail family zinc finger 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003059", "id": "NP_003059" }, { "name": "zinc finger protein SNAI2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003059", "id": "NP_003059" } ], "function": [ { "annotation": "A SNAI2/CTCF Interaction is Required for NOTCH1 Expression in Rhabdomyosarcoma.", "evidence": [ { "database": "RefSeq", "id": "NP_003059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003059" }, { "database": "PubMed", "id": "37882064", "url": "https://glygen.org/publication/PubMed/37882064" } ] }, { "annotation": "FSCN1 and epithelial mesenchymal transformation transcription factor expression in human pancreatic intraepithelial neoplasia and ductal adenocarcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_003059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003059" }, { "database": "PubMed", "id": "37832352", "url": "https://glygen.org/publication/PubMed/37832352" } ] }, { "annotation": "Liver X receptor alpha ensures blood-brain barrier function by suppressing SNAI2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003059" }, { "database": "PubMed", "id": "38016947", "url": "https://glygen.org/publication/PubMed/38016947" } ] }, { "annotation": "PAK5 potentiates slug transactivation of N-cadherin to facilitate metastasis of renal cell carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_003059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003059" }, { "database": "PubMed", "id": "37437827", "url": "https://glygen.org/publication/PubMed/37437827" } ] }, { "annotation": "Specific intracellular retention of circSKA3 promotes colorectal cancer metastasis by attenuating ubiquitination and degradation of SLUG. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003059" }, { "database": "PubMed", "id": "37973787", "url": "https://glygen.org/publication/PubMed/37973787" } ] }, { "annotation": "This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003059" } ] }, { "annotation": "Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its transcription. Involved in the regulation of ITGB1 and ITGB4 expression and cell adhesion and proliferation in epidermal keratinocytes. Binds to E-box2 domain of BSG and activates its expression during TGFB1-induced epithelial-mesenchymal transition (EMT) in hepatocytes. Represses E-Cadherin/CDH1 transcription via E-box elements. Involved in osteoblast maturation. Binds to RUNX2 and SOC9 promoters and may act as a positive and negative transcription regulator, respectively, in osteoblasts. Binds to CXCL12 promoter via E-box regions in mesenchymal stem cells and osteoblasts. Plays an essential role in TWIST1-induced EMT and its ability to promote invasion and metastasis.", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623#function" }, { "database": "PubMed", "id": "11912130", "url": "https://glygen.org/publication/PubMed/11912130" }, { "database": "PubMed", "id": "19756381", "url": "https://glygen.org/publication/PubMed/19756381" }, { "database": "PubMed", "id": "21182836", "url": "https://glygen.org/publication/PubMed/21182836" }, { "database": "PubMed", "id": "10866665", "url": "https://glygen.org/publication/PubMed/10866665" }, { "database": "PubMed", "id": "16707493", "url": "https://glygen.org/publication/PubMed/16707493" }, { "database": "PubMed", "id": "15734731", "url": "https://glygen.org/publication/PubMed/15734731" } ] } ], "disease": [ { "disease_id": "DOID:0110952", "recommended_name": { "id": "DOID:0110952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110952", "name": "obsolete Waardenburg syndrome type 2D", "description": "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11." }, "synonyms": [ { "id": "DOID:0110952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110952", "name": "WS2D", "description": "" }, { "id": "DOID:0110952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110952", "name": "Waardenburg syndrome type IID", "description": "" }, { "id": "MONDO:0012144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012144", "name": "Waardenburg syndrome type 2D", "description": "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene." }, { "id": "MONDO:0012144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012144", "name": "SNAI2 Waardenburg syndrome type 2", "description": "" }, { "id": "MONDO:0012144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012144", "name": "WS2D", "description": "" }, { "id": "MONDO:0012144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012144", "name": "Waardenburg syndrome type 2 caused by mutation in SNAI2", "description": "" }, { "id": "MONDO:0012144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012144", "name": "Waardenburg syndrome type IID", "description": "" }, { "id": "MONDO:0012144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012144", "name": "Waardenburg syndrome, type 2D", "description": "" }, { "id": "MIM:608890", "resource": "MIM", "url": "https://www.omim.org/entry/608890", "name": "Waardenburg syndrome 2D", "description": "Waardenburg syndrome 2D" } ], "evidence": [ { "id": "608890", "database": "MIM", "url": "https://www.omim.org/entry/608890" } ] }, { "disease_id": "DOID:3263", "recommended_name": { "id": "DOID:3263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3263", "name": "piebaldism", "description": "An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12." }, "synonyms": [ { "id": "DOID:3263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3263", "name": "PIEBALD TRAIT", "description": "" }, { "id": "DOID:3263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3263", "name": "Partial albinism", "description": "" }, { "id": "MONDO:0008244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008244", "name": "piebaldism", "description": "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." }, { "id": "MONDO:0008244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008244", "name": "partial albinism", "description": "" }, { "id": "MONDO:0008244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008244", "name": "piebald trait", "description": "" }, { "id": "MONDO:0008244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008244", "name": "piebaldism", "description": "" }, { "id": "MONDO:0008244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008244", "name": "PBT", "description": "" }, { "id": "MIM:172800", "resource": "MIM", "url": "https://www.omim.org/entry/172800", "name": "Piebald trait", "description": "Piebald trait" } ], "evidence": [ { "id": "172800", "database": "MIM", "url": "https://www.omim.org/entry/172800" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 100, "end_pos": 100, "sequence_org": "S", "sequence_mut": "A", "comment": "Increases protein stability and half-life, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-104.", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" }, { "database": "PubMed", "id": "22727060", "url": "https://glygen.org/publication/PubMed/22727060" } ] }, { "start_pos": 104, "end_pos": 104, "sequence_org": "S", "sequence_mut": "A", "comment": "Increases protein stability and half-life, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-100.", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" }, { "database": "PubMed", "id": "22727060", "url": "https://glygen.org/publication/PubMed/22727060" } ] }, { "start_pos": 166, "end_pos": 166, "sequence_org": "K", "sequence_mut": "E", "comment": "Abolishes binding to KPNA2, KPNB1 and IPO7 and impairs binding to TMPO1; when associated with E-175.", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 175, "end_pos": 175, "sequence_org": "K", "sequence_mut": "E", "comment": "Abolishes binding to KPNA2, KPNB1 and IPO7 and impairs binding to TMPO1; when associated with E-166.", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 192, "end_pos": 192, "sequence_org": "K", "sequence_mut": "E", "comment": "Abolishes binding to KPNA2 and impairs binding to KPNB1, IPO7 and TMPO1; when associated with E-196.", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 196, "end_pos": 196, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes binding to KPNA2 and impairs binding to KPNB1, IPO7 and TMPO1; when associated with E-192.", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 225, "end_pos": 225, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes binding to KPNA2, KPNB1 and IPO7 and impairs binding to TMPO1; when associated with E-229.", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 229, "end_pos": 229, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes binding to KPNA2, KPNB1 and IPO7 and impairs binding to TMPO1; when associated with E-225.", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" }, { "database": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "start_pos": 87, "end_pos": 87, "sequence_org": "S", "sequence_mut": "A", "comment": "Increases protein stability. Does not affect repressor activity on E-cadherin/CDH1 promoter.", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" }, { "database": "PubMed", "id": "22727060", "url": "https://glygen.org/publication/PubMed/22727060" } ] }, { "start_pos": 92, "end_pos": 92, "sequence_org": "S", "sequence_mut": "A", "comment": "Increases protein stability, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-96.", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" }, { "database": "PubMed", "id": "22727060", "url": "https://glygen.org/publication/PubMed/22727060" } ] }, { "start_pos": 96, "end_pos": 96, "sequence_org": "S", "sequence_mut": "A", "comment": "Increases protein stability, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-92.", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" }, { "database": "PubMed", "id": "22727060", "url": "https://glygen.org/publication/PubMed/22727060" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "77.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019549" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019549" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "73.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000019549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019549" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019549" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019549" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019549" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "70.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000019549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019549" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "95.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019549" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019549" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "69.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000019549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019549" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "76.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000019549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019549" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019549" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000019549", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000019549" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43623" } ], "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43623" } ], "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": "O43623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43623" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43623" } ], "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": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43623" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43623", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43623" }, { "database": "PubMed", "id": "29849120", "url": "https://glygen.org/publication/PubMed/29849120" } ], "site_lbl": "Ser254" }, { "start_pos": 4, "end_pos": 4, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43623", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43623" }, { "database": "PubMed", "id": "22567133", "url": "https://glygen.org/publication/PubMed/22567133" } ], "site_lbl": "Ser4" }, { "start_pos": 87, "end_pos": 87, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43623", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43623" }, { "database": "PubMed", "id": "25855378", "url": 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[ { "type": "PubMed", "id": "10866665", "url": "https://glygen.org/publication/PubMed/10866665" } ] }, { "title": "Tumor suppressor and anti-inflammatory actions of PPARgamma agonists are mediated via upregulation of PTEN.", "journal": "Current biology : CB", "date": "2001", "authors": "Patel L, Pass I, Coxon P, Downes CP, Smith SA, Macphee CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "11378386", "url": "https://glygen.org/publication/PubMed/11378386" } ] }, { "title": "Regulation of PTEN transcription by p53.", "journal": "Molecular cell", "date": "2001", "authors": "Stambolic V, MacPherson D, Sas D, Lin Y, Snow B, Jang Y, Benchimol S, Mak TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "11545734", "url": "https://glygen.org/publication/PubMed/11545734" } ] }, { "title": "The Egr-1 transcription factor directly activates PTEN during irradiation-induced signalling.", "journal": "Nature cell biology", "date": "2001", "authors": "Virolle T, Adamson ED, Baron V, Birle D, Mercola D, Mustelin T, de Belle I", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "11781575", "url": "https://glygen.org/publication/PubMed/11781575" } ] }, { "title": "The SLUG zinc-finger protein represses E-cadherin in breast cancer.", "journal": "Cancer research", "date": "2002", "authors": "Hajra KM, Chen DY, Fearon ER", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" } ], "reference": [ { "type": "PubMed", "id": "11912130", "url": "https://glygen.org/publication/PubMed/11912130" } ] }, { "title": "p53 regulates cell survival by inhibiting PIK3CA in squamous cell carcinomas.", "journal": "Genes & development", "date": "2002", "authors": "Singh B, Reddy PG, Goberdhan A, Walsh C, Dao S, Ngai I, Chou TC, O-Charoenrat P, Levine AJ, Rao PH, Stoffel A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "11959846", "url": "https://glygen.org/publication/PubMed/11959846" } ] }, { "title": "SLUG (SNAI2) deletions in patients with Waardenburg disease.", "journal": "Hum. Mol. Genet.", "date": "2002", "authors": "Sanchez-Martin M, Rodriguez-Garcia A, Perez-Losada J, Sagrera A, Read AP, Sanchez-Garcia I", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" } ], "reference": [ { "type": "PubMed", "id": "12444107", "url": "https://glygen.org/publication/PubMed/12444107" } ] }, { "title": "Deletion of the SLUG (SNAI2) gene results in human piebaldism.", "journal": "Am. J. Med. Genet. A", "date": "2003", "authors": "S\u00e1nchez-Mart\u00edn Manuel, P\u00e9rez-Losada Jes\u00fas, Rodr\u00edguez-Garc\u00eda Arancha, Gonz\u00e1lez-S\u00e1nchez Bel\u00e9n, Korf Bruce R, Kuster W, Moss Celia, Spritz Richard A, S\u00e1nchez-Garc\u00eda I", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" } ], "reference": [ { "type": "PubMed", "id": "12955764", "url": "https://glygen.org/publication/PubMed/12955764" } ] }, { "title": "Regulation of BRCA2 gene expression by the SLUG repressor protein in human breast cells.", "journal": "The Journal of biological chemistry", "date": "2005-04-29", "authors": "Tripathi Manish K, Misra Smita, Khedkar Sheetal V, Hamilton Nalo, Irvin-Wilson Charletha, Sharan Chakradhari, Sealy Linda, Chaudhuri Gautam", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" } ], "reference": [ { "type": "PubMed", "id": "15734731", "url": "https://glygen.org/publication/PubMed/15734731" } ] }, { "title": "Up-regulation of PTEN (phosphatase and tensin homolog deleted on chromosome ten) mediates p38 MAPK stress signal-induced inhibition of insulin signaling. 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"https://glygen.org/publication/PubMed/17974977" } ] }, { "title": "Repression of PTEN phosphatase by Snail1 transcriptional factor during gamma radiation-induced apoptosis.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Escriva M, Peiro S, Herranz N, Villagrasa P, Dave N, Montserrat-Sentis B, Murray SA, Franci C, Gridley T, Virtanen I, Garcia de Herreros A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "18172008", "url": "https://glygen.org/publication/PubMed/18172008" } ] }, { "title": "Transrepressive function of TLX requires the histone demethylase LSD1.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Yokoyama A, Takezawa S, Schule R, Kitagawa H, Kato S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "18391013", "url": "https://glygen.org/publication/PubMed/18391013" } ] }, { "title": "SALL4 is a key regulator of survival and apoptosis in human leukemic cells.", "journal": "Blood", "date": "2008", "authors": "Yang J, Chai L, Gao C, Fowles TC, Alipio Z, Dang H, Xu D, Fink LM, Ward DC, Ma Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "18487508", "url": "https://glygen.org/publication/PubMed/18487508" } ] }, { "title": "Characterization of Snail nuclear import pathways as representatives of C2H2 zinc finger transcription factors.", "journal": "Journal of cell science", "date": "2009", "authors": "Mingot JM, Vega S, Maestro B, Sanz JM, Nieto MA", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" } ], "reference": [ { "type": "PubMed", "id": "19386897", "url": "https://glygen.org/publication/PubMed/19386897" } ] }, { "title": "Stem cell factor SALL4 represses the transcriptions of PTEN and SALL1 through an epigenetic repressor complex.", "journal": "PloS one", "date": "2009", "authors": "Lu J, Jeong HW, Kong N, Yang Y, Carroll J, Luo HR, Silberstein LE, Yupoma, Chai L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "19440552", "url": "https://glygen.org/publication/PubMed/19440552" } ] }, { "title": "Slug gene expression supports human osteoblast maturation.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2009-11", "authors": "Lambertini Elisabetta, Lisignoli Gina, Torreggiani Elena, Manferdini Cristina, Gabusi Elena, Franceschetti Tiziana, Penolazzi Letizia, Gambari Roberto, Facchini Andrea, Piva Roberta", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": 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cancer cells.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Shor B, Wu J, Shakey Q, Toral-Barza L, Shi C, Follettie M, Yu K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "20233713", "url": "https://glygen.org/publication/PubMed/20233713" } ] }, { "title": "mTORC1 directly phosphorylates and regulates human MAF1.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Michels AA, Robitaille AM, Buczynski-Ruchonnet D, Hodroj W, Reina JH, Hall MN, Hernandez N", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "20516213", "url": "https://glygen.org/publication/PubMed/20516213" } ] }, { "title": "Slug contributes to the regulation of CXCL12 expression in human osteoblasts.", "journal": "Experimental cell research", "date": "2011-05-01", "authors": "Piva Roberta, Manferdini Cristina, Lambertini Elisabetta, Torreggiani Elena, Penolazzi Letizia, Gambari Roberto, Pastore Antonio, Pelucchi Stefano, Gabusi Elena, Piacentini Anna, Filardo Giuseppe, Facchini Andrea, Lisignoli Gina", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" } ], "reference": [ { "type": "PubMed", "id": "21182836", "url": "https://glygen.org/publication/PubMed/21182836" } ] }, { "title": "Evi1 represses PTEN expression and activates PI3K/AKT/mTOR via interactions with polycomb proteins.", "journal": "Blood", "date": "2011", "authors": "Yoshimi A, Goyama S, Watanabe-Okochi N, Yoshiki Y, Nannya Y, Nitta E, Arai S, Sato T, Shimabe M, Nakagawa M, Imai Y, Kitamura T, Kurokawa M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": 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"type": "PubMed", "id": "22567133", "url": "https://glygen.org/publication/PubMed/22567133" } ] }, { "title": "Functional regulation of Slug/Snail2 is dependent on GSK-3beta-mediated phosphorylation.", "journal": "The FEBS journal", "date": "2012", "authors": "Kim JY, Kim YM, Yang CH, Cho SK, Lee JW, Cho M", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" } ], "reference": [ { "type": "PubMed", "id": "22727060", "url": "https://glygen.org/publication/PubMed/22727060" } ] }, { "title": "Targeting transcription factor SALL4 in acute myeloid leukemia by interrupting its interaction with an epigenetic complex.", "journal": "Blood", "date": "2013", "authors": "Gao C, Dimitrov T, Yong KJ, Tatetsu H, Jeong HW, Luo HR, Bradner JE, Tenen DG, Chai L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724" } ], "reference": [ { "type": "PubMed", "id": "23287862", "url": 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Uncouples Slug Gene Regulatory Function.", "journal": "Cancer research", "date": "2015", "authors": "Virtakoivu R, Mai A, Mattila E, De Franceschi N, Imanishi SY, Corthals G, Kaukonen R, Saari M, Cheng F, Torvaldson E, Kosma VM, Mannermaa A, Muharram G, Gilles C, Eriksson J, Soini Y, Lorens JB, Ivaska J", "evidence": [ { "database": "iPTMnet", "id": "O43623", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43623" } ], "reference": [ { "type": "PubMed", "id": "25855378", "url": "https://glygen.org/publication/PubMed/25855378" } ] }, { "title": "Syntenin regulates TGF-beta1-induced Smad activation and the epithelial-to-mesenchymal transition by inhibiting caveolin-mediated TGF-beta type I receptor internalization.", "journal": "Oncogene", "date": "2016", "authors": "Hwangbo C, Tae N, Lee S, Kim O, Park OK, Kim J, Kwon SH, Lee JH", "evidence": [ { "database": "UniProtKB", "id": "O43623", "url": "https://www.uniprot.org/uniprot/O43623" } ], "reference": [ { "type": "PubMed", 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