{ "uniprot_canonical_ac": "O95983-1", "uniprot_ac": "O95983", "uniprot_id": "MBD3_HUMAN", "mass": { "chemical_mass": 32844.0, "monoisotopic_mass": 32844.0 }, "refseq": { "ac": "NP_001268382", "name": "methyl-CpG-binding domain protein 3 isoform 1", "summary": "DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encoded protein is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. Unlike the other family members, the encoded protein is not capable of binding to methylated DNA. The protein mediates the association of metastasis-associated protein 2 with the core histone deacetylase complex. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268382" }, "gene_names": [ { "name": "MBD3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95983", "id": "O95983" }, { "name": "MBD3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268382", "id": "NP_001268382" }, { "name": "hCG_22692", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95983", "id": "O95983" } ], "protein_names": [ { "name": "Methyl-CpG-binding domain protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95983" }, { "name": "Methyl-CpG-binding protein MBD3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95983" }, { "name": "methyl-CpG-binding domain protein 3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268382", "id": "NP_001268382" } ], "function": [ { "annotation": "Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:12124384, PubMed:16428440, PubMed:28977666). Acts as transcriptional repressor and plays a role in gene silencing (PubMed:10947852, PubMed:18644863). Does not bind to methylated DNA by itself (PubMed:12124384, PubMed:16428440). Binds to a lesser degree DNA containing unmethylated CpG dinucleotides (PubMed:24307175). Recruits histone deacetylases and DNA methyltransferases.", "evidence": [ { "database": "UniProtKB", "id": "O95983", "url": "https://www.uniprot.org/uniprot/O95983#function" }, { "database": "PubMed", "id": "23361464", "url": "https://glygen.org/publication/PubMed/23361464" }, { "database": "PubMed", "id": "10947852", "url": "https://glygen.org/publication/PubMed/10947852" }, { "database": "PubMed", "id": "24307175", "url": "https://glygen.org/publication/PubMed/24307175" }, { "database": "PubMed", "id": "16428440", "url": "https://glygen.org/publication/PubMed/16428440" }, { "database": "PubMed", "id": "12124384", "url": "https://glygen.org/publication/PubMed/12124384" }, { "database": "PubMed", "id": "18644863", "url": "https://glygen.org/publication/PubMed/18644863" }, { "database": "PubMed", "id": "9774669", "url": "https://glygen.org/publication/PubMed/9774669" }, { "database": "PubMed", "id": "28977666", "url": "https://glygen.org/publication/PubMed/28977666" } ] }, { "annotation": "DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encoded protein is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. Unlike the other family members, the encoded protein is not capable of binding to methylated DNA. The protein mediates the association of metastasis-associated protein 2 with the core histone deacetylase complex. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001268382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268382" } ] }, { "annotation": "Densely methylated DNA traps Methyl-CpG-binding domain protein 2 but permits free diffusion by Methyl-CpG-binding domain protein 3.", "evidence": [ { "database": "RefSeq", "id": "NP_001268382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268382" }, { "database": "PubMed", "id": "36037972", "url": "https://glygen.org/publication/PubMed/36037972" } ] }, { "annotation": "Glioma stem-like cells evade interferon suppression through MBD3/NuRD complex-mediated STAT1 downregulation.", "evidence": [ { "database": "RefSeq", "id": "NP_001268382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268382" }, { "database": "PubMed", "id": "32181805", "url": "https://glygen.org/publication/PubMed/32181805" } ] }, { "annotation": "MBD3 promotes hepatocellular carcinoma progression and metastasis through negative regulation of tumour suppressor TFPI2.", "evidence": [ { "database": "RefSeq", "id": "NP_001268382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268382" }, { "database": "PubMed", "id": "35501390", "url": "https://glygen.org/publication/PubMed/35501390" } ] }, { "annotation": "Methyl-CpG binding domain protein 3: a new diagnostic marker and potential therapeutic target of melanoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001268382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268382" }, { "database": "PubMed", "id": "32963182", "url": "https://glygen.org/publication/PubMed/32963182" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs143527255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143527255" }, { "id": "rs143527255", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143527255" }, { "id": "rs143527255", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143527255#frequency_tab" }, { "id": "rs143527255", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143527255" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 174, "end_pos": 174, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DET->NET).", "chr_id": "19", "chr_pos": "1581249", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D174", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95983", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95983" } ], "glycoeffect": [], "start_pos": 17, "end_pos": 17, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "1592582", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R17", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "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" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1485570265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1485570265" }, { "id": "rs1485570265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1485570265" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 58, "end_pos": 58, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "19", "chr_pos": "1585153", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D58", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764313106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764313106" }, { "id": "rs764313106", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764313106" }, { "id": "rs764313106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764313106" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 84, "end_pos": 84, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "19", "chr_pos": "1585075", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D84", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95983", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95983" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 97, "end_pos": 97, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "1584658", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T97", "disease": [ { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease 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"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": "O95983", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95983" } ], "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", 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"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": 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cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95983", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95983" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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{ "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 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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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95983", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95983" } ], "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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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95983", "url": "https://www.uniprot.org/uniprot/O95983" } ], "common_name": "Human" } ], "gene": [ { "name": "MBD3", "url": "https://www.uniprot.org/uniprot/O95983", "locus": { "chromosome": "19", "start_pos": 1573596, "end_pos": 1592865, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000071655", "url": "https://www.ensembl.org/id/ENSG00000071655" } ] } } ], "crossref": [ { "id": "ENSG00000071655", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000071655", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O95983", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95983", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd01396", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01396", "database": "CDD", "categories": 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"database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12396", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12396", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12396:SF12", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12396:SF12", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2MB7", "url": "https://www.rcsb.org/structure/2MB7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6CC8", "url": "https://www.rcsb.org/structure/6CC8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6CCG", "url": "https://www.rcsb.org/structure/6CCG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6CEU", "url": "https://www.rcsb.org/structure/6CEU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6CEV", "url": "https://www.rcsb.org/structure/6CEV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01429", "url": "http://pfam.xfam.org/family/PF01429", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14048", "url": "http://pfam.xfam.org/family/PF14048", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16564", "url": "http://pfam.xfam.org/family/PF16564", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95983", "url": "https://pharos.nih.gov/targets/O95983", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95983", "url": "http://purl.obolibrary.org/obo/PR_O95983", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-427389", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427389", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6804758", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804758", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8943724", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8943724", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001268382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268382", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WT34", "url": "https://www.uniprot.org/uniprot/A0A087WT34", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WT34-1", "url": "https://www.uniprot.org/uniprot/A0A087WT34-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WVG6", "url": "https://www.uniprot.org/uniprot/A0A087WVG6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WVG6-1", "url": "https://www.uniprot.org/uniprot/A0A087WVG6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WZ12", "url": "https://www.uniprot.org/uniprot/A0A087WZ12", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WZ12-1", "url": "https://www.uniprot.org/uniprot/A0A087WZ12-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X1H1", "url": "https://www.uniprot.org/uniprot/A0A087X1H1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X1H1-1", "url": "https://www.uniprot.org/uniprot/A0A087X1H1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MTS6", "url": "https://www.uniprot.org/uniprot/A0A0A0MTS6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MTS6-1", "url": "https://www.uniprot.org/uniprot/A0A0A0MTS6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EIE8", "url": "https://www.uniprot.org/uniprot/K7EIE8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EIE8-1", "url": "https://www.uniprot.org/uniprot/K7EIE8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95983", "url": "https://www.uniprot.org/uniprot/O95983", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95983-1", "url": "https://www.uniprot.org/uniprot/O95983-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95983-2", "url": "https://www.uniprot.org/uniprot/O95983-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MERKRWECPALPQGWEREEVPRRSGLSAGHRDVFYYSPSGKKFRSKPQLARYLGGSMDLSTFDFRTGKMLMSKMNKSRQRVRYDSSNQVKGKPDLNTALPVRQTASIFKQPVTKITNHPSNKVKSDPQKAVDQPRQLFWEKKLSGLNAFDIAEELVKTMDLPKGLQGVGPGCTDETLLSAIASALHTSTMPITGQLSAAVEKNPGVWLNTTQPLCKAFMVTDEDIRKQEELVQQVRKRLEEALMADMLAHVEELARDGEAPLDKACAEDDDEEDEEEEEEEPDPDPEMEHV", "length": 291, "header": "sp|O95983-1|MBD3_HUMAN Isoform 1 of Methyl-CpG-binding domain protein 3 OS=Homo sapiens OX=9606 GN=MBD3 PE=1 SV=1 CANONICAL=O95983-1" }, "isoforms": [ { "isoform_ac": "A0A087WT34-1", "url": "", "sequence": { "sequence": "MDLSTFDFRTGKMLMSKMNKSRQRVRYDSSNQVKGKPDLNTALPVRQTASIFKQPVTKITNHPSNKVKSDPQKAVDQPRQLFWEKKLSGLNAFDIAEELVKTMDLPKGLQGVGPGCTDETLLSAIASALH", "length": 130, "header": "tr|A0A087WT34-1|A0A087WT34_HUMAN Computationally mapped isoform of Methyl-CpG binding domain protein 3 OS=Homo sapiens OX=9606 GN=MBD3 PE=1 SV=1 CANONICAL=O95983-1" }, "locus": { "chromosome": "19", "start_pos": 1585156, "end_pos": 1581211, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592361.2", "url": "https://www.ensembl.org/id/ENST00000592361.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000477547.1", "url": "https://www.ensembl.org/id/ENSP00000477547.1" } ] } }, { "isoform_ac": "A0A087WVG6-1", "url": "", "sequence": { "sequence": "XDPQKAVDQPRQSLALSPRLECSGRILTHYNLCLLVSTGFK", "length": 41, "header": "tr|A0A087WVG6-1|A0A087WVG6_HUMAN Computationally mapped isoform of Methyl-CpG binding domain protein 3 OS=Homo sapiens OX=9606 GN=MBD3 PE=4 SV=1 CANONICAL=O95983-1" }, "locus": { "chromosome": "19", "start_pos": 1584573, "end_pos": 1583292, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585903.1", "url": "https://www.ensembl.org/id/ENST00000585903.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000479427.1", "url": "https://www.ensembl.org/id/ENSP00000479427.1" } ] } }, { "isoform_ac": "A0A087WZ12-1", "url": "", "sequence": { "sequence": "MDLSTFDFRTGKMLMSKMNKSRQRVRYDSSNQVK", "length": 34, "header": "tr|A0A087WZ12-1|MBD3_HUMAN Computationally mapped isoform of Methyl-CpG-binding domain protein 3 OS=Homo sapiens OX=9606 GN=MBD3 PE=1 SV=1 CANONICAL=O95983-1" }, "locus": { "chromosome": "19", "start_pos": 1585156, "end_pos": 1585055, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592965.2", "url": "https://www.ensembl.org/id/ENST00000592965.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000482276.1", "url": "https://www.ensembl.org/id/ENSP00000482276.1" } ] } }, { "isoform_ac": "A0A087X1H1-1", "url": "", "sequence": { "sequence": "MDLSTFDFRTGKMLMSKMNKSRQRVRYDSSNQVKGKPDLNTALPVRQTASIFKQPVTKITNHPSNKVKSDPQKAVDQPRQLFWEKKLSGLNAFDIAEELVKTMDLPKGLQGVGPGCTDETLLSAIASALHTSTMPITGQLSAAVEKN", "length": 147, "header": "tr|A0A087X1H1-1|A0A087X1H1_HUMAN Computationally mapped isoform of Methyl-CpG binding domain protein 3 OS=Homo sapiens OX=9606 GN=MBD3 PE=1 SV=1 CANONICAL=O95983-1" }, "locus": { "chromosome": "19", "start_pos": 1585156, "end_pos": 1581160, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585967.5", "url": "https://www.ensembl.org/id/ENST00000585967.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000484202.1", "url": "https://www.ensembl.org/id/ENSP00000484202.1" } ] } }, { "isoform_ac": "A0A0A0MTS6-1", "url": "", "sequence": { "sequence": "MDLSTFDFRTGKMLMSKMNKSRQRVRYDSSNQVKGKPDLNTALPVRQTASIFKQPVTKITNHPSNKVKSDPQKAVDQPRQLFWEKKLSGLNAFDIAEELVKTMDLPKGLQGVGPGCTDETLLSAIASALHTSTMPITGQLSAAVEKNPGVWLNTTQPLCKAFMVTDEDISRKSWCSRCGSGWRRR", "length": 185, "header": "tr|A0A0A0MTS6-1|A0A0A0MTS6_HUMAN Computationally mapped isoform of Methyl-CpG binding domain protein 3 OS=Homo sapiens OX=9606 GN=MBD3 PE=1 SV=1 CANONICAL=O95983-1" }, "locus": { "chromosome": "19", "start_pos": 1585156, "end_pos": 1578489, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592012.5", "url": "https://www.ensembl.org/id/ENST00000592012.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466670.2", "url": "https://www.ensembl.org/id/ENSP00000466670.2" } ] } }, { "isoform_ac": "K7EIE8-1", "url": "", "sequence": { "sequence": "MDLSTFDFRTGKMLMSKMNKSRQRVRYDSSNQVKGKPDLNTALPVRQTASIFKQPVTKITNHPSNKVKSDPQKAVDQPRQLFWEKKLSGLNAFDIAEELVKTMDLPKGLQGVGPGCTDETLLSAIASALHTSTMPITGQLSAAVEKNPGVWLNTTQPLCKAFMVTDEDIRKQEELVQQVRKRLEEALMADMLAHVEELARDGEAPLDKACAEDDDEEDEEEEEEEPDPDPEMEHV", "length": 235, "header": "tr|K7EIE8-1|K7EIE8_HUMAN Computationally mapped isoform of Methyl-CpG binding domain protein 3 OS=Homo sapiens OX=9606 GN=MBD3 PE=1 SV=1 CANONICAL=O95983-1" }, "locus": { "chromosome": "19", "start_pos": 1585156, "end_pos": 1578343, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590550.6", "url": "https://www.ensembl.org/id/ENST00000590550.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000464718.1", "url": "https://www.ensembl.org/id/ENSP00000464718.1" } ] } }, { "isoform_ac": "O95983-1", "url": "", "sequence": { "sequence": "MERKRWECPALPQGWEREEVPRRSGLSAGHRDVFYYSPSGKKFRSKPQLARYLGGSMDLSTFDFRTGKMLMSKMNKSRQRVRYDSSNQVKGKPDLNTALPVRQTASIFKQPVTKITNHPSNKVKSDPQKAVDQPRQLFWEKKLSGLNAFDIAEELVKTMDLPKGLQGVGPGCTDETLLSAIASALHTSTMPITGQLSAAVEKNPGVWLNTTQPLCKAFMVTDEDIRKQEELVQQVRKRLEEALMADMLAHVEELARDGEAPLDKACAEDDDEEDEEEEEEEPDPDPEMEHV", "length": 291, "header": "sp|O95983-1|MBD3_HUMAN Isoform 1 of Methyl-CpG-binding domain protein 3 OS=Homo sapiens OX=9606 GN=MBD3 PE=1 SV=1 CANONICAL=O95983-1" }, "locus": { "chromosome": "19", "start_pos": 1592631, "end_pos": 1578343, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434436.8", "url": "https://www.ensembl.org/id/ENST00000434436.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000412302.2", "url": "https://www.ensembl.org/id/ENSP00000412302.2" } ] } }, { "isoform_ac": "O95983-2", "url": "", "sequence": { "sequence": "MERKSPSGKKFRSKPQLARYLGGSMDLSTFDFRTGKMLMSKMNKSRQRVRYDSSNQVKGKPDLNTALPVRQTASIFKQPVTKITNHPSNKVKSDPQKAVDQPRQLFWEKKLSGLNAFDIAEELVKTMDLPKGLQGVGPGCTDETLLSAIASALHTSTMPITGQLSAAVEKNPGVWLNTTQPLCKAFMVTDEDIRKQEELVQQVRKRLEEALMADMLAHVEELARDGEAPLDKACAEDDDEEDEEEEEEEPDPDPEMEHV", "length": 259, "header": "sp|O95983-2|MBD3_HUMAN Isoform 2 of Methyl-CpG-binding domain protein 3 OS=Homo sapiens OX=9606 GN=MBD3 PE=1 SV=1 CANONICAL=O95983-1" }, "locus": { "chromosome": "19", "start_pos": 1592631, "end_pos": 1578343, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000156825.5", "url": "https://www.ensembl.org/id/ENST00000156825.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000156825.2", "url": "https://www.ensembl.org/id/ENSP00000156825.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 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"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "10082553", "url": "https://glygen.org/publication/PubMed/10082553" } ] }, { "title": "Molecular and ligand-binding characterization of the sigma-receptor in the Jurkat human T lymphocyte cell line.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "1999", "authors": "Ganapathy ME, Prasad PD, Huang W, Seth P, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "10087012", "url": "https://glygen.org/publication/PubMed/10087012" } ] }, { "title": "Analysis of the NuRD subunits reveals a histone deacetylase core complex and a connection with DNA methylation.", "journal": "Genes & development", "date": "1999", "authors": "Zhang Y, Ng HH, Erdjument-Bromage H, Tempst P, Bird A, Reinberg D", "evidence": [ { 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"date": "2000", "authors": "Hu E, Chen Z, Fredrickson T, Zhu Y, Kirkpatrick R, Zhang GF, Johanson K, Sung CM, Liu R, Winkler J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815" } ], "reference": [ { "type": "PubMed", "id": "10748112", "url": "https://glygen.org/publication/PubMed/10748112" } ] }, { "title": "NuRD and SIN3 histone deacetylase complexes in development.", "journal": "Trends in genetics : TIG", "date": "2000", "authors": "Ahringer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815" } ], "reference": [ { "type": "PubMed", "id": "10904264", "url": "https://glygen.org/publication/PubMed/10904264" } ] }, { "title": "Repression of RNA polymerase I transcription by the tumor suppressor p53.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Zhai W, Comai L", "evidence": [ { "database": "Reactome", "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "10913176", "url": "https://glygen.org/publication/PubMed/10913176" } ] }, { "title": "Histone deacetylase inhibitors: inducers of differentiation or apoptosis of transformed cells.", "journal": "Journal of the National Cancer Institute", "date": "2000", "authors": "Marks PA, Richon VM, Rifkind RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815" } ], "reference": [ { "type": "PubMed", "id": "10922406", "url": "https://glygen.org/publication/PubMed/10922406" } ] }, { "title": "Cloning and characterization of a novel human histone deacetylase, HDAC8.", "journal": "The Biochemical journal", "date": "2000", "authors": "Buggy JJ, Sideris ML, Mak P, Lorimer DD, McIntosh B, Clark JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": 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"reference": [ { "type": "PubMed", "id": "11099047", "url": "https://glygen.org/publication/PubMed/11099047" } ] }, { "title": "Stable histone deacetylase complexes distinguished by the presence of SANT domain proteins CoREST/kiaa0071 and Mta-L1.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Humphrey G W, Wang Y, Russanova V R, Hirai T, Qin J, Nakatani Y, Howard B H", "evidence": [ { "database": "UniProtKB", "id": "O95983", "url": "https://www.uniprot.org/uniprot/O95983" } ], "reference": [ { "type": "PubMed", "id": "11102443", "url": "https://glygen.org/publication/PubMed/11102443" } ] }, { "title": "Acetylation of TAF(I)68, a subunit of TIF-IB/SL1, activates RNA polymerase I transcription.", "journal": "The EMBO journal", "date": "2001", "authors": "Muth V, Nadaud S, Grummt I, Voit R", "evidence": [ { "database": "Reactome", "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "11250901", "url": "https://glygen.org/publication/PubMed/11250901" } ] }, { "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": "The SMRT and N-CoR corepressors are activating cofactors for histone deacetylase 3.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Guenther MG, Barak O, Lazar MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815" } ], "reference": [ { "type": "PubMed", "id": "11509652", "url": "https://glygen.org/publication/PubMed/11509652" } ] }, { "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": "Isolation and characterization of a novel class II histone deacetylase, HDAC10.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fischer DD, Cai R, Bhatia U, Asselbergs FA, Song C, Terry R, Trogani N, Widmer R, Atadja P, Cohen D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815" } ], "reference": [ { "type": "PubMed", "id": "11739383", "url": "https://glygen.org/publication/PubMed/11739383" } ] }, { "title": "Valproic acid defines a novel class of HDAC inhibitors inducing differentiation of transformed cells.", "journal": "The EMBO journal", "date": "2001", "authors": "Gottlicher M, Minucci S, Zhu P, Kramer OH, Schimpf A, Giavara S, Sleeman JP, Lo Coco F, Nervi C, Pelicci PG, Heinzel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815" } ], "reference": [ { "type": "PubMed", "id": "11742974", "url": "https://glygen.org/publication/PubMed/11742974" } ] }, { "title": "Identification and functional characterization of the p66/p68 components of the MeCP1 complex.", "journal": "Mol. Cell. Biol.", "date": "2002", "authors": "Feng Qin, Cao Ru, Xia Li, Erdjument-Bromage Hediye, Tempst Paul, Zhang Yi", "evidence": [ { "database": "UniProtKB", "id": "O95983", "url": "https://www.uniprot.org/uniprot/O95983" } ], "reference": [ { "type": "PubMed", "id": "11756549", "url": "https://glygen.org/publication/PubMed/11756549" } ] }, { "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": "Identification of mammalian Sds3 as an integral component of the Sin3/histone deacetylase corepressor complex.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Alland L, David G, Shen-Li H, Potes J, Muhle R, Lee HC, Hou H Jr, Chen K, DePinho RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815" } ], "reference": [ { "type": "PubMed", "id": "11909966", "url": "https://glygen.org/publication/PubMed/11909966" } ] }, { "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": "A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Hakimi MA, Bochar DA, Chenoweth J, Lane WS, Mandel G, Shiekhattar R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815" } ], "reference": [ { "type": "PubMed", "id": "12032298", "url": "https://glygen.org/publication/PubMed/12032298" } ] }, { "title": "The mCpG-binding domain of human MBD3 does not bind to mCpG but interacts with NuRD/Mi2 components HDAC1 and MTA2.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Saito M, Ishikawa F", "evidence": [ { "database": "UniProtKB", "id": "O95983", "url": "https://www.uniprot.org/uniprot/O95983" } ], "reference": [ { "type": "PubMed", "id": "12124384", "url": "https://glygen.org/publication/PubMed/12124384" } ] }, { "title": "Two highly related p66 proteins comprise a new family of potent transcriptional repressors interacting with MBD2 and MBD3.", "journal": "J. Biol. 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