{ "uniprot_canonical_ac": "O95992-1", "uniprot_ac": "O95992", "uniprot_id": "CH25H_HUMAN", "mass": { "chemical_mass": 31745.0, "monoisotopic_mass": 31745.0 }, "refseq": { "ac": "NP_003947", "name": "cholesterol 25-hydroxylase", "summary": "This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947" }, "gene_names": [ { "name": "CH25H", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95992", "id": "O95992" }, { "name": "C25H", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947", "id": "NP_003947" }, { "name": "CH25H", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947", "id": "NP_003947" } ], "protein_names": [ { "name": "Cholesterol 25-hydroxylase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95992" }, { "name": "1.14.99.38", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95992" }, { "name": "Cholesterol 25-monooxygenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95992" }, { "name": "cholesterol 25-hydroxylase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947", "id": "NP_003947" }, { "name": "h25OH; cholesterol 25-monooxygenase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947", "id": "NP_003947" }, { "name": "h25OH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95992" } ], "function": [ { "annotation": "Based on the results of genome-wide screens, along with biological studies, we selected three genes as candidates for AD risk factors: ATP-binding cassette transporter A1 (ABCA1), cholesterol 25-hydroxylase (CH25H) and cholesterol 24-hydroxylase (CH24H). GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_003947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947" }, { "database": "PubMed", "id": "16157450", "url": "https://glygen.org/publication/PubMed/16157450" } ] }, { "annotation": "Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes (PubMed:9852097). Plays a key role in cell positioning and movement in lymphoid tissues: 25-hydroxycholesterol is an intermediate in biosynthesis of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC), an oxysterol that acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells (By similarity). May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element binding protein (SREBP) processing (PubMed:9852097). As an interferon-stimulated gene, has broad antiviral activities against a wide range of enveloped viruses, such as vesicular stomatitis virus (VSV) and SARS coronavirus-2 (SARS-CoV-2). Its product, 25-hydroxycholesterol, activates the ER-localized enzyme ACAT to induce internalization of accessible cholesterol on the plasma membrane and restricts SARS-CoV-2 S protein-mediated fusion which inhibits virus replication (PubMed:33239446, PubMed:32944968). In testis, production of 25-hydroxycholesterol by macrophages plays a role in Leydig cell differentiation (By similarity). Required to restrain inflammation in macrophages: production of 25-hydroxycholesterol protects macrophages from cholesterol overload, thereby preventing mitochondrial DNA release and subsequent activation of the AIM2 inflammasome (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95992", "url": "https://www.uniprot.org/uniprot/O95992#function" }, { "database": "UniProtKB", "id": "Q9Z0F5", "url": "https://www.uniprot.org/uniprot/Q9Z0F5#function" }, { "database": "PubMed", "id": "9852097", "url": "https://glygen.org/publication/PubMed/9852097" }, { "database": "PubMed", "id": "33239446", "url": "https://glygen.org/publication/PubMed/33239446" }, { "database": "UniProtKB", "id": "Q4QQV7", "url": "https://www.uniprot.org/uniprot/Q4QQV7#function" }, { "database": "PubMed", "id": "32944968", "url": "https://glygen.org/publication/PubMed/32944968" } ] }, { "annotation": "Expression Pattern of Cholesterol 25-Hydroxylase and Serum Level of 25-Hydroxycholesterol and Relevant Inflammatory Cytokines in Patients with Varying Disease Severity of COVID-19.", "evidence": [ { "database": "RefSeq", "id": "NP_003947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947" }, { "database": "PubMed", "id": "37831916", "url": "https://glygen.org/publication/PubMed/37831916" } ] }, { "annotation": "Involvement of CCL2 and CH25H Genes and TNF signaling pathways in mast cell activation and pathogenesis of chronic spontaneous urticaria. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947" }, { "database": "PubMed", "id": "37646031", "url": "https://glygen.org/publication/PubMed/37646031" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_003947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947" }, { "database": "PubMed", "id": "16385451", "url": "https://glygen.org/publication/PubMed/16385451" }, { "database": "PubMed", "id": "15465627", "url": "https://glygen.org/publication/PubMed/15465627" } ] }, { "annotation": "Research progress on the mechanism of cholesterol-25-hydroxylase in intestinal immunity. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947" }, { "database": "PubMed", "id": "37720208", "url": "https://glygen.org/publication/PubMed/37720208" } ] }, { "annotation": "The role of cholesterol 25-hydroxylase in viral infections: Mechanisms and implications. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_003947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947" }, { "database": "PubMed", "id": "37660656", "url": "https://glygen.org/publication/PubMed/37660656" } ] }, { "annotation": "This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947" } ] }, { "annotation": "Tumor-Suppressive and Immune-Stimulating Roles of Cholesterol 25-hydroxylase in Pancreatic Cancer Cells.", "evidence": [ { "database": "RefSeq", "id": "NP_003947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947" }, { "database": "PubMed", "id": "36378658", "url": "https://glygen.org/publication/PubMed/36378658" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs778695467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778695467" }, { "id": "rs778695467", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778695467" }, { "id": "rs778695467", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778695467#frequency_tab" }, { "id": "rs778695467", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778695467" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 163, "end_pos": 163, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "10", "chr_pos": "89206805", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778695467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778695467" }, { "id": "rs778695467", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778695467" }, { "id": "rs778695467", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778695467#frequency_tab" }, { "id": "rs778695467", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778695467" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 163, "end_pos": 163, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->TSS).", "chr_id": "10", "chr_pos": "89206805", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770666017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770666017" }, { "id": "rs770666017", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770666017" }, { "id": "rs770666017", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770666017" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 164, "end_pos": 164, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NPS).", "chr_id": "10", "chr_pos": "89206803", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760370210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760370210" }, { "id": "rs760370210", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760370210" }, { "id": "rs760370210", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760370210" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 191, "end_pos": 191, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVA).", "chr_id": "10", "chr_pos": "89206722", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766992825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766992825" }, { "id": "rs766992825", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766992825" }, { "id": "rs766992825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766992825" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 200, "end_pos": 200, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLT->NLT).", "chr_id": "10", "chr_pos": "89206694", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765569882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765569882" }, { "id": "rs765569882", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765569882" }, { "id": "rs765569882", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765569882#frequency_tab" }, { "id": "rs765569882", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765569882" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 221, "end_pos": 221, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "10", "chr_pos": "89206632", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765569882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765569882" }, { "id": "rs765569882", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765569882" }, { "id": "rs765569882", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765569882#frequency_tab" }, { "id": "rs765569882", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765569882" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 221, "end_pos": 221, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFT).", "chr_id": "10", "chr_pos": "89206632", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1306584660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1306584660" }, { "id": "rs1306584660", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1306584660" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 251, "end_pos": 251, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFA->NFS).", "chr_id": "10", "chr_pos": "89206542", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A251", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1383816518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1383816518" }, { "id": "rs1383816518", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1383816518" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 7, "end_pos": 7, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->NCF).", "chr_id": "10", "chr_pos": "89207273", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S7", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 242, "end_pos": 243, "sequence_org": "HH", "sequence_mut": "QQ", "comment": "Loss of cholesterol 25-hydroxylase activity. Loss of inhibition of infection by SARS-COV-2.", "evidence": [ { "database": "UniProtKB", "id": "O95992", "url": "https://www.uniprot.org/uniprot/O95992" }, { "database": "PubMed", "id": "33239446", "url": "https://glygen.org/publication/PubMed/33239446" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "56.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138135" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "69.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138135" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "58.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138135" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138135" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "72.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138135" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "78.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138135" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138135" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "72.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138135" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "69.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138135" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "82.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138135" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "56.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138135" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "63.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138135" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "69.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138135", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138135" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95992", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95992" } ], "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", 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}, { "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 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95992", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95992" } ], "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", 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"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", 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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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}, { "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": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95992", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95992" } ], "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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Aging", "date": "2004", "authors": "Riemenschneider M, Mahmoodzadeh S, Eisele T, Klopp N, Schwarz S, Wagenpfeil S, Diehl J, Mueller U, Foerstl H, Illig T, Kurz A", "evidence": [ { "database": "UniProtKB", "id": "O95992", "url": "https://www.uniprot.org/uniprot/O95992" }, { "database": "RefSeq", "id": "NP_003947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947" } ], "reference": [ { "type": "PubMed", "id": "15465627", "url": "https://glygen.org/publication/PubMed/15465627" } ] }, { "title": "Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease.", "journal": "Neurosci. Lett.", "date": "2006", "authors": "Shibata N, Kawarai T, Lee JH, Lee HS, Shibata E, Sato C, Liang Y, Duara R, Mayeux RP, St George-Hyslop PH, Rogaeva E", "evidence": [ { "database": "UniProtKB", "id": "O95992", "url": "https://www.uniprot.org/uniprot/O95992" }, { "database": "RefSeq", "id": "NP_003947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947" } ], "reference": [ { "type": "PubMed", "id": "16157450", "url": "https://glygen.org/publication/PubMed/16157450" } ] }, { "title": "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.", "journal": "American journal of human genetics", "date": "2006", "authors": "Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A", "evidence": [ { "database": "RefSeq", "id": "NP_003947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003947" } ], "reference": [ { "type": "PubMed", "id": "16385451", "url": "https://glygen.org/publication/PubMed/16385451" } ] }, { "title": "The mammalian oxysterol-binding protein-related proteins (ORPs) bind 25-hydroxycholesterol in an evolutionarily conserved pocket.", "journal": "The Biochemical journal", "date": "2007", "authors": "Suchanek M, Hynynen R, Wohlfahrt G, Lehto M, Johansson M, Saarinen H, Radzikowska A, Thiele C, Olkkonen VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-192105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-192105" } ], "reference": [ { "type": "PubMed", "id": "17428193", "url": "https://glygen.org/publication/PubMed/17428193" } ] }, { "title": "Oxysterol-binding proteins: functions in cell regulation beyond lipid metabolism.", "journal": "Biochemical pharmacology", "date": "2013", "authors": "Weber-Boyvat M, Zhong W, Yan D, Olkkonen VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-192105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-192105" } ], "reference": [ { "type": "PubMed", "id": "23428468", "url": "https://glygen.org/publication/PubMed/23428468" } ] }, { "title": "Oxysterol-binding proteins: sterol and phosphoinositide sensors coordinating transport, signaling and metabolism.", "journal": "Progress in lipid research", "date": "2013", "authors": "Olkkonen VM, Li S", "evidence": [ { "database": "Reactome", "id": "R-HSA-192105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-192105" } ], "reference": [ { "type": "PubMed", "id": "23830809", "url": "https://glygen.org/publication/PubMed/23830809" } ] }, { "title": "A four-step cycle driven by PI(4)P hydrolysis directs sterol/PI(4)P exchange by the ER-Golgi tether OSBP.", "journal": "Cell", "date": "2013", "authors": "Mesmin B, Bigay J, Moser von Filseck J, Lacas-Gervais S, Drin G, Antonny B", "evidence": [ { "database": "Reactome", "id": "R-HSA-192105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-192105" } ], "reference": [ { "type": "PubMed", "id": "24209621", "url": "https://glygen.org/publication/PubMed/24209621" } ] }, { "title": "Oxysterol-binding protein (OSBP)-related protein 4 (ORP4) is essential for cell proliferation and survival.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Charman M, Colbourne TR, Pietrangelo A, Kreplak L, Ridgway ND", "evidence": [ { "database": "Reactome", "id": "R-HSA-192105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-192105" } ], "reference": [ { "type": "PubMed", "id": "24742681", "url": "https://glygen.org/publication/PubMed/24742681" } ] }, { "title": "OSBP-Related Protein Family in Lipid Transport Over Membrane Contact Sites.", "journal": "Lipid insights", "date": "2015", "authors": "Olkkonen VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-192105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-192105" } ], "reference": [ { "type": "PubMed", "id": "26715851", "url": "https://glygen.org/publication/PubMed/26715851" } ] }, { "title": "Cholesterol 25-Hydroxylase inhibits SARS-CoV-2 and other coronaviruses by depleting membrane cholesterol.", "journal": "The EMBO journal", "date": "2020-11-02", "authors": "Wang Shaobo, Li Wanyu, Hui Hui, Tiwari Shashi Kant, Zhang Qiong, Croker Ben A, Rawlings Stephen, Smith Davey, Carlin Aaron F, Rana Tariq M", "evidence": [ { "database": "UniProtKB", "id": "O95992", "url": "https://www.uniprot.org/uniprot/O95992" } ], "reference": [ { "type": "PubMed", "id": "32944968", "url": "https://glygen.org/publication/PubMed/32944968" } ] }, { "title": "Cholesterol 25-hydroxylase suppresses SARS-CoV-2 replication by blocking membrane fusion.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Zang R, Case JB, Yutuc E, Ma X, Shen S, Gomez Castro MF, Liu Z, Zeng Q, Zhao H, Son J, Rothlauf PW, Kreutzberger AJB, Hou G, Zhang H, Bose S, Wang X, Vahey MD, Mani K, Griffiths WJ, Kirchhausen T, Fremont DH, Guo H, Diwan A, Wang Y, Diamond MS, Whelan SPJ, Ding S", "evidence": [ { "database": "UniProtKB", "id": "O95992", "url": "https://www.uniprot.org/uniprot/O95992" } ], "reference": [ { "type": "PubMed", "id": "33239446", "url": "https://glygen.org/publication/PubMed/33239446" } ] }, { "title": "Tumor suppressive and immune-stimulating roles of cholesterol 25-hydroxylase in pancreatic cancer cells.", "journal": "Molecular cancer research : MCR", "date": "2022-11-15", "authors": "McBrearty Noreen, Cho Christina, Chen Jinyun, Zahedi Farima, Peck Amy R, Radaelli Enrico, Assenmacher Charles-Antoine, Pavlak Clarice, Devine Anne, Yu Pengfei, Lu Zhen, Zhang Hongru, Li Jinyang, Pitarresi Jason R, Astsaturov Igor, Cukierman Edna, Rustgi Anil K, Stanger Ben Z, Rui Hallgeir, Fuchs Serge Y", "evidence": [ { "database": "RefSeq", 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