{ "uniprot_canonical_ac": "O75084-1", "uniprot_ac": "O75084", "uniprot_id": "FZD7_HUMAN", "mass": { "chemical_mass": 63620.0, "monoisotopic_mass": 63620.0 }, "refseq": { "ac": "NP_003498", "name": "frizzled-7 precursor", "summary": "Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498" }, "gene_names": [ { "name": "FZD7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75084", "id": "O75084" }, { "name": "FZD7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498", "id": "NP_003498" }, { "name": "FzE3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498", "id": "NP_003498" } ], "protein_names": [ { "name": "Frizzled-7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75084" }, { "name": "Frizzled, drosophila, homolog of, 7; frizzled 7, seven transmembrane spanning receptor; frizzled-7; fz-7; hFz7; frizzled homolog 7; frizzled family receptor 7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498", "id": "NP_003498" }, { "name": "Fz-7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75084" }, { "name": "FzE3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75084" }, { "name": "frizzled-7 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498", "id": "NP_003498" }, { "name": "hFz7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75084" } ], "function": [ { "annotation": "(Microbial infection) Acts as a receptor for C.difficile toxin TcdB in the colonic epithelium.", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084#function" }, { "database": "PubMed", "id": "27680706", "url": "https://glygen.org/publication/PubMed/27680706" } ] }, { "annotation": "An investigation of bacteriocin nisin anti-cancer effects and FZD7 protein interactions in liver cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_003498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498" }, { "database": "PubMed", "id": "36084725", "url": "https://glygen.org/publication/PubMed/36084725" } ] }, { "annotation": "FZD7 accelerates hepatic metastases in pancreatic cancer by strengthening EMT and stemness associated with TGF-beta/SMAD3 signaling. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498" }, { "database": "PubMed", "id": "35854234", "url": "https://glygen.org/publication/PubMed/35854234" } ] }, { "annotation": "FZD7: A potential biomarker for endometriosis.", "evidence": [ { "database": "RefSeq", "id": "NP_003498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498" }, { "database": "PubMed", "id": "37800830", "url": "https://glygen.org/publication/PubMed/37800830" } ] }, { "annotation": "GIPC2 interacts with Fzd7 to promote prostate cancer metastasis by activating WNT signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_003498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498" }, { "database": "PubMed", "id": "35347223", "url": "https://glygen.org/publication/PubMed/35347223" } ] }, { "annotation": "Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498" } ] }, { "annotation": "MiR-1-3p enhances the sensitivity of ovarian cancer cells to ferroptosis by targeting FZD7.", "evidence": [ { "database": "RefSeq", "id": "NP_003498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498" }, { "database": "PubMed", "id": "36481629", "url": "https://glygen.org/publication/PubMed/36481629" } ] }, { "annotation": "Receptor for Wnt proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. Activation by WNT8 induces expression of beta-catenin target genes (By similarity). Following ligand activation, binds to CCDC88C/DAPLE which displaces DVL1 from FZD7 and leads to inhibition of canonical Wnt signaling, activation of G-proteins by CCDC88C and triggering of non-canonical Wnt responses (PubMed:26126266). May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084#function" }, { "database": "UniProtKB", "id": "Q61090", "url": "https://www.uniprot.org/uniprot/Q61090#function" }, { "database": "PubMed", "id": "26126266", "url": "https://glygen.org/publication/PubMed/26126266" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O75084", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75084" }, { "id": "rs185267840", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185267840" }, { "id": "rs185267840", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs185267840" }, { "id": "rs185267840", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs185267840" }, { "id": "rs185267840", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs185267840#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 166, "end_pos": 166, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NTS->NTL).", "chr_id": "2", "chr_pos": "202035144", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S166", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs769510212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769510212" }, { "id": "rs769510212", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769510212" }, { "id": "rs769510212", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769510212#frequency_tab" }, { "id": "rs769510212", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769510212" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 191, "end_pos": 191, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "2", "chr_pos": "202035219", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T191", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774136031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774136031" }, { "id": "rs774136031", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774136031" }, { "id": "rs774136031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774136031" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 526, "end_pos": 526, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFT->NFT).", "chr_id": "2", "chr_pos": "202036223", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D526", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748759824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748759824" }, { "id": "rs748759824", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748759824" }, { "id": "rs748759824", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748759824" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 548, "end_pos": 548, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IWS->NWS).", "chr_id": "2", "chr_pos": "202036290", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I548", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1489938804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1489938804" }, { "id": "rs1489938804", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1489938804#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 565, "end_pos": 565, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SHS->NHS).", "chr_id": "2", "chr_pos": "202036341", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S565", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763259152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763259152" }, { "id": "rs763259152", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763259152" }, { "id": "rs763259152", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763259152" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 63, "end_pos": 63, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->HQT).", "chr_id": "2", "chr_pos": "202034834", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N63", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1471966906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1471966906" }, { "id": "rs1471966906", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1471966906#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 65, "end_pos": 65, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->NQN).", "chr_id": "2", "chr_pos": "202034841", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T65", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 569, "end_pos": 569, "sequence_org": "K", "sequence_mut": "A", "comment": "Impaired SDCBP-mediated interaction with phosphatidylinositol-4,5-bisphosphate.", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" }, { "database": "PubMed", "id": "27386966", "url": "https://glygen.org/publication/PubMed/27386966" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "81.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "81.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "79.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "77.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "67.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "61.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "83.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75084" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75084" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75084" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75084" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75084" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75084" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75084" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75084" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75084" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75084" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75084" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75084" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "common_name": "Human" } ], "gene": [ { "name": "FZD7", "url": "https://www.uniprot.org/uniprot/O75084", "locus": { "chromosome": "2", "start_pos": 202038441, "end_pos": 202033855, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000155760", "url": "https://www.ensembl.org/id/ENSG00000155760" } ] } } ], "crossref": [ { "id": "ENSG00000155760", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155760", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75084", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75084", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd07466", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07466", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd15246", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd15246", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3559688", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3559688", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "FZD7", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FZD7", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8324", "url": "https://www.ncbi.nlm.nih.gov/gene/8324", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "4045", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4045", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75084", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75084*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000539", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000539", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015526", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015526", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017981", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017981", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020067", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020067", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036790", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036790", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8324", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8324", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603410", "url": "http://www.omim.org/entry/603410", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75084", "url": "https://www.nextprot.org/entry/NX_O75084", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "VCIDKFR", "url": "https://omabrowser.org/oma/group/VCIDKFR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5483535at2759", "url": "http://www.orthodb.org/?query=5483535at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11309", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11309", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11309:SF31", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11309:SF31", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4Z33", "url": "https://www.rcsb.org/structure/4Z33", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5T44", "url": "https://www.rcsb.org/structure/5T44", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5URV", "url": "https://www.rcsb.org/structure/5URV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5WBS", "url": "https://www.rcsb.org/structure/5WBS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6NE2", "url": "https://www.rcsb.org/structure/6NE2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6NE4", "url": "https://www.rcsb.org/structure/6NE4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6O3A", "url": "https://www.rcsb.org/structure/6O3A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6O3B", "url": "https://www.rcsb.org/structure/6O3B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7EVW", "url": "https://www.rcsb.org/structure/7EVW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01392", "url": "http://pfam.xfam.org/family/PF01392", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01534", "url": "http://pfam.xfam.org/family/PF01534", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75084", "url": "https://pharos.nih.gov/targets/O75084", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050815", "url": "https://proconsortium.org/app/entry/PR:000050815", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O75084", "url": "http://purl.obolibrary.org/obo/PR_O75084", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4608870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4608870", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75084", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75084-1", "url": "https://www.uniprot.org/uniprot/O75084-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRDPGAAAPLSSLGLCALVLALLGALSAGAGAQPYHGEKGISVPDHGFCQPISIPLCTDIAYNQTILPNLLGHTNQEDAGLEVHQFYPLVKVQCSPELRFFLCSMYAPVCTVLDQAIPPCRSLCERARQGCEALMNKFGFQWPERLRCENFPVHGAGEICVGQNTSDGSGGPGGGPTAYPTAPYLPDLPFTALPPGASDGRGRPAFPFSCPRQLKVPPYLGYRFLGERDCGAPCEPGRANGLMYFKEEERRFARLWVGVWSVLCCASTLFTVLTYLVDMRRFSYPERPIIFLSGCYFMVAVAHVAGFLLEDRAVCVERFSDDGYRTVAQGTKKEGCTILFMVLYFFGMASSIWWVILSLTWFLAAGMKWGHEAIEANSQYFHLAAWAVPAVKTITILAMGQVDGDLLSGVCYVGLSSVDALRGFVLAPLFVYLFIGTSFLLAGFVSLFRIRTIMKHDGTKTEKLEKLMVRIGVFSVLYTVPATIVLACYFYEQAFREHWERTWLLQTCKSYAVPCPPGHFPPMSPDFTVFMIKYLMTMIVGITTGFWIWSGKTLQSWRRFYHRLSHSSKGETAV", "length": 574, "header": "sp|O75084-1|FZD7_HUMAN Isoform 1 of Frizzled-7 OS=Homo sapiens OX=9606 GN=FZD7 PE=1 SV=2 CANONICAL=O75084-1" }, "isoforms": [ { "isoform_ac": "O75084-1", "url": "", "sequence": { "sequence": "MRDPGAAAPLSSLGLCALVLALLGALSAGAGAQPYHGEKGISVPDHGFCQPISIPLCTDIAYNQTILPNLLGHTNQEDAGLEVHQFYPLVKVQCSPELRFFLCSMYAPVCTVLDQAIPPCRSLCERARQGCEALMNKFGFQWPERLRCENFPVHGAGEICVGQNTSDGSGGPGGGPTAYPTAPYLPDLPFTALPPGASDGRGRPAFPFSCPRQLKVPPYLGYRFLGERDCGAPCEPGRANGLMYFKEEERRFARLWVGVWSVLCCASTLFTVLTYLVDMRRFSYPERPIIFLSGCYFMVAVAHVAGFLLEDRAVCVERFSDDGYRTVAQGTKKEGCTILFMVLYFFGMASSIWWVILSLTWFLAAGMKWGHEAIEANSQYFHLAAWAVPAVKTITILAMGQVDGDLLSGVCYVGLSSVDALRGFVLAPLFVYLFIGTSFLLAGFVSLFRIRTIMKHDGTKTEKLEKLMVRIGVFSVLYTVPATIVLACYFYEQAFREHWERTWLLQTCKSYAVPCPPGHFPPMSPDFTVFMIKYLMTMIVGITTGFWIWSGKTLQSWRRFYHRLSHSSKGETAV", "length": 574, "header": "sp|O75084-1|FZD7_HUMAN Isoform 1 of Frizzled-7 OS=Homo sapiens OX=9606 GN=FZD7 PE=1 SV=2 CANONICAL=O75084-1" }, "locus": { "chromosome": "2", "start_pos": 202036369, "end_pos": 202034648, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000286201.3", "url": "https://www.ensembl.org/id/ENST00000286201.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000286201.1", "url": "https://www.ensembl.org/id/ENSP00000286201.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 164, "start_aa": "Asn", "end_pos": 164, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn164", "evidence": [ { "id": "O75084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75084#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 191, "start_aa": "Thr", "end_pos": 191, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr191", "evidence": [ { "id": "O75084", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "HGEKGISVPDHGF", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 36, "start_aa": "His", "end_pos": 48, "end_aa": "Phe", "evidence": [ { "id": "O75084", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 42, "start_aa": "Ser", "end_pos": 42, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser42", "evidence": [ { "id": "O75084", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "evidence": [ { "id": "O75084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75084#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 550, "end_pos": 550, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75084", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75084" }, { "database": "PubMed", "id": "17273804", "url": "https://glygen.org/publication/PubMed/17273804" } ], "site_lbl": "Ser550" }, { "start_pos": 556, "end_pos": 556, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75084", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75084" }, { "database": "PubMed", "id": "17273804", "url": "https://glygen.org/publication/PubMed/17273804" } ], "site_lbl": "Ser556" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O75084", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Biochemical characterization of Wnt-frizzled interactions using a soluble, biologically active vertebrate Wnt protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Hsieh JC, Rattner A, Smallwood PM, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "10097073", "url": "https://glygen.org/publication/PubMed/10097073" } ] }, { "title": "Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis.", "journal": "The EMBO journal", "date": "2000", "authors": "Rothbacher U, Laurent MN, Deardorff MA, Klein PS, Cho KW, Fraser SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "10698942", "url": "https://glygen.org/publication/PubMed/10698942" } ] }, { "title": "Role of frizzled 7 in the regulation of convergent extension movements during gastrulation in Xenopus laevis.", "journal": "Development (Cambridge, England)", "date": "2000", "authors": "Djiane A, Riou J, Umbhauer M, Boucaut J, Shi D", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "10862746", "url": "https://glygen.org/publication/PubMed/10862746" } ] }, { "title": "c-Jun inhibits transforming growth factor beta-mediated transcription by repressing Smad3 transcriptional activity.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Dennler S, Prunier C, Ferrand N, Gauthier JM, Atfi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324" } ], "reference": [ { "type": "PubMed", "id": "10871633", "url": "https://glygen.org/publication/PubMed/10871633" } ] }, { "title": "Structural basis of the recognition of the dishevelled DEP domain in the Wnt signaling pathway.", "journal": "Nature structural biology", "date": "2000", "authors": "Wong HC, Mao J, Nguyen JT, Srinivas S, Zhang W, Liu B, Li L, Wu D, Zheng J", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "11101902", "url": "https://glygen.org/publication/PubMed/11101902" } ] }, { "title": "Molecular analysis of the epidermal growth factor-like short consensus repeat domain-mediated protein-protein interactions: dissection of the CD97-CD55 complex.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Lin HH, Stacey M, Saxby C, Knott V, Chaudhry Y, Evans D, Gordon S, McKnight AJ, Handford P, Lea S", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "11297558", "url": "https://glygen.org/publication/PubMed/11297558" } ] }, { "title": "Unipolar membrane association of Dishevelled mediates Frizzled planar cell polarity signaling.", "journal": "Genes & development", "date": "2001", "authors": "Axelrod JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "11358862", "url": "https://glygen.org/publication/PubMed/11358862" } ] }, { "title": "JNK functions in the non-canonical Wnt pathway to regulate convergent extension movements in vertebrates.", "journal": "EMBO reports", "date": "2002", "authors": "Yamanaka H, Moriguchi T, Masuyama N, Kusakabe M, Hanafusa H, Takada R, Takada S, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "11751577", "url": "https://glygen.org/publication/PubMed/11751577" } ] }, { "title": "Wnt/Frizzled activation of Rho regulates vertebrate gastrulation and requires a novel Formin homology protein Daam1.", "journal": "Cell", "date": "2001", "authors": "Habas R, Kato Y, He X", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "11779461", "url": "https://glygen.org/publication/PubMed/11779461" } ] }, { "title": "Prickle mediates feedback amplification to generate asymmetric planar cell polarity signaling.", "journal": "Cell", "date": "2002", "authors": "Tree DR, Shulman JM, Rousset R, Scott MP, Gubb D, Axelrod JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "12015986", "url": "https://glygen.org/publication/PubMed/12015986" } ] }, { "title": "Mechanisms of p75-mediated death of hippocampal neurons. Role of caspases.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Troy CM, Friedman JE, Friedman WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324" } ], "reference": [ { "type": "PubMed", "id": "12097334", "url": "https://glygen.org/publication/PubMed/12097334" } ] }, { "title": "Characterization of the human and mouse genes encoding the tuberoinfundibular peptide of 39 residues, a ligand of the parathyroid hormone receptor family.", "journal": "The Journal of endocrinology", "date": "2002", "authors": "Hansen IA, Jakob O, Wortmann S, Arzberger T, Allolio B, Blind E", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "12098667", "url": "https://glygen.org/publication/PubMed/12098667" } ] }, { "title": "An actin nucleation mechanism mediated by Bni1 and profilin.", "journal": "Nature cell biology", "date": "2002", "authors": "Sagot I, Rodal AA, Moseley J, Goode BL, Pellman D", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "12134165", "url": "https://glygen.org/publication/PubMed/12134165" } ] }, { "title": "Coactivation of Rac and Rho by Wnt/Frizzled signaling is required for vertebrate gastrulation.", "journal": "Genes & development", "date": "2003", "authors": "Habas R, Dawid IB, He X", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "12533515", "url": "https://glygen.org/publication/PubMed/12533515" } ] }, { "title": "Tuberoinfundibular peptide of 39 residues (TIP39): molecular structure and activity for parathyroid hormone 2 receptor.", "journal": "Neuropharmacology", "date": "2003", "authors": "Della Penna K, Kinose F, Sun H, Koblan KS, Wang H", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "12559132", "url": "https://glygen.org/publication/PubMed/12559132" } ] }, { "title": "Novel human homologues of p47phox and p67phox participate in activation of superoxide-producing NADPH oxidases.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Takeya R, Ueno N, Kami K, Taura M, Kohjima M, Izaki T, Nunoi H, Sumimoto H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324" } ], "reference": [ { "type": "PubMed", "id": "12716910", "url": "https://glygen.org/publication/PubMed/12716910" } ] }, { "title": "Identification of Vangl2 and Scrb1 as planar polarity genes in mammals.", "journal": "Nature", "date": "2003", "authors": "Montcouquiol M, Rachel RA, Lanford PJ, Copeland NG, Jenkins NA, Kelley MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-4608870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4608870" } ], "reference": [ { "type": "PubMed", "id": "12724779", "url": "https://glygen.org/publication/PubMed/12724779" } ] }, { "title": "The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2003", "authors": "Oishi I, Suzuki H, Onishi N, Takada R, Kani S, Ohkawara B, Koshida I, Suzuki K, Yamada G, Schwabe GC, Mundlos S, Shibuya H, Takada S, Minami Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "12839624", "url": "https://glygen.org/publication/PubMed/12839624" } ] }, { "title": "Direct binding of the PDZ domain of Dishevelled to a conserved internal sequence in the C-terminal region of Frizzled.", "journal": "Molecular cell", "date": "2003", "authors": "Wong HC, Bourdelas A, Krauss A, Lee HJ, Shao Y, Wu D, Mlodzik M, Shi DL, Zheng J", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "14636582", "url": "https://glygen.org/publication/PubMed/14636582" } ] }, { "title": "Wnt proteins induce dishevelled phosphorylation via an LRP5/6- independent mechanism, irrespective of their ability to stabilize beta-catenin.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Gonzalez-Sancho JM, Brennan KR, Castelo-Soccio LA, Brown AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "15143170", "url": "https://glygen.org/publication/PubMed/15143170" } ] }, { "title": "Frizzled6 controls hair patterning in mice.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Guo N, Hawkins C, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "15169958", "url": "https://glygen.org/publication/PubMed/15169958" } ] }, { "title": "Expression of the largest CD97 and EMR2 isoforms on leukocytes facilitates a specific interaction with chondroitin sulfate on B cells.", "journal": "Journal of leukocyte biology", "date": "2005", "authors": "Kwakkenbos MJ, Pouwels W, Matmati M, Stacey M, Lin HH, Gordon S, van Lier RA, Hamann J", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "15498814", "url": "https://glygen.org/publication/PubMed/15498814" } ] }, { "title": "Formins: processive cappers of growing actin filaments.", "journal": "Experimental cell research", "date": "2004", "authors": "Watanabe N, Higashida C", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "15501440", "url": "https://glygen.org/publication/PubMed/15501440" } ] }, { "title": "Wnt signaling through Dishevelled, Rac and JNK regulates dendritic development.", "journal": "Nature neuroscience", "date": "2005", "authors": "Rosso SB, Sussman D, Wynshaw-Boris A, Salinas PC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "15608632", "url": "https://glygen.org/publication/PubMed/15608632" } ] }, { "title": "Subcellular localization and signaling properties of dishevelled in developing vertebrate embryos.", "journal": "Current biology : CB", "date": "2005", "authors": "Park TJ, Gray RS, Sato A, Habas R, Wallingford JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "15936275", "url": "https://glygen.org/publication/PubMed/15936275" } ] }, { "title": "Diego and Prickle regulate Frizzled planar cell polarity signalling by competing for Dishevelled binding.", "journal": "Nature cell biology", "date": "2005", "authors": "Jenny A, Reynolds-Kenneally J, Das G, Burnett M, Mlodzik M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4608870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4608870" } ], "reference": [ { "type": "PubMed", "id": "15937478", "url": "https://glygen.org/publication/PubMed/15937478" } ] }, { "title": "Ryk-mediated Wnt repulsion regulates posterior-directed growth of corticospinal tract.", "journal": "Nature neuroscience", "date": "2005", "authors": "Liu Y, Shi J, Lu CC, Wang ZB, Lyuksyutova AI, Song XJ, Zou Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "16116452", "url": "https://glygen.org/publication/PubMed/16116452" } ] }, { "title": "Wnt-Ryk signalling mediates medial-lateral retinotectal topographic mapping.", "journal": "Nature", "date": "2006", "authors": "Schmitt AM, Shi J, Wolf AM, Lu CC, King LA, Zou Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "16280981", "url": "https://glygen.org/publication/PubMed/16280981" } ] }, { "title": "Molecular interaction of NADPH oxidase 1 with betaPix and Nox Organizer 1.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Park HS, Park D, Bae YS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324" } ], "reference": [ { "type": "PubMed", "id": "16329988", "url": "https://glygen.org/publication/PubMed/16329988" } ] }, { "title": "The role of Frizzled3 and Frizzled6 in neural tube closure and in the planar polarity of inner-ear sensory hair cells.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2006", "authors": "Wang Y, Guo N, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "16495441", "url": "https://glygen.org/publication/PubMed/16495441" } ] }, { "title": "Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context.", "journal": "PLoS biology", "date": "2006", "authors": "Mikels AJ, Nusse R", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "16602827", "url": "https://glygen.org/publication/PubMed/16602827" } ] }, { "title": "Nox1-dependent reactive oxygen generation is regulated by Rac1.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Cheng G, Diebold BA, Hughes Y, Lambeth JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324" } ], "reference": [ { "type": "PubMed", "id": "16636067", "url": "https://glygen.org/publication/PubMed/16636067" } ] }, { "title": "Asymmetric localization of Vangl2 and Fz3 indicate novel mechanisms for planar cell polarity in mammals.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2006", "authors": "Montcouquiol M, Sans N, Huss D, Kach J, Dickman JD, Forge A, Rachel RA, Copeland NG, Jenkins NA, Bogani D, Murdoch J, Warchol ME, Wenthold RJ, Kelley MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-4608870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4608870" } ], "reference": [ { "type": "PubMed", "id": "16687519", "url": "https://glygen.org/publication/PubMed/16687519" } ] }, { "title": "The Wnt receptor Ryk is required for Wnt5a-mediated axon guidance on the contralateral side of the corpus callosum.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2006", "authors": "Keeble TR, Halford MM, Seaman C, Kee N, Macheda M, Anderson RB, Stacker SA, Cooper HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "16723543", "url": "https://glygen.org/publication/PubMed/16723543" } ] }, { "title": "Direct involvement of the small GTPase Rac in activation of the superoxide-producing NADPH oxidase Nox1.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Miyano K, Ueno N, Takeya R, Sumimoto H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324" } ], "reference": [ { "type": "PubMed", "id": "16762923", "url": "https://glygen.org/publication/PubMed/16762923" } ] }, { "title": "Ryk: a novel Wnt receptor regulating axon pathfinding.", "journal": "The international journal of biochemistry & cell biology", "date": "2006", "authors": "Keeble TR, Cooper HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "16971168", "url": "https://glygen.org/publication/PubMed/16971168" } ] }, { "title": "Profilin is an effector for Daam1 in non-canonical Wnt signaling and is required for vertebrate gastrulation.", "journal": "Development (Cambridge, England)", "date": "2006", "authors": "Sato A, Khadka DK, Liu W, Bharti R, Runnels LW, Dawid IB, Habas R", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "17021034", "url": "https://glygen.org/publication/PubMed/17021034" } ] }, { "title": "Wnt11 controls cell contact persistence by local accumulation of Frizzled 7 at the plasma membrane.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Witzel S, Zimyanin V, Carreira-Barbosa F, Tada M, Heisenberg CP", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "17130287", "url": "https://glygen.org/publication/PubMed/17130287" } ] }, { "title": "Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas.", "journal": "Breast Cancer Res.", "date": "2007", "authors": "Chanock SJ, Burdett L, Yeager M, Llaca V, Langerod A, Presswalla S, Kaaresen R, Strausberg RL, Gerhard DS, Kristensen V, Perou CM, Borresen-Dale AL", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "reference": [ { "type": "PubMed", "id": "17224074", "url": "https://glygen.org/publication/PubMed/17224074" } ] }, { "title": "Comparative integromics on FZD7 orthologs: conserved binding sites for PU.1, SP1, CCAAT-box and TCF/LEF/SOX transcription factors within 5'-promoter region of mammalian FZD7 orthologs.", "journal": "International journal of molecular medicine", "date": "2007", "authors": "Katoh M, Katoh M", "evidence": [ { "database": "iPTMnet", "id": "O75084", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75084" } ], "reference": [ { "type": "PubMed", "id": "17273804", "url": "https://glygen.org/publication/PubMed/17273804" } ] }, { "title": "Mechanism and function of formins in the control of actin assembly.", "journal": "Annual review of biochemistry", "date": "2007", "authors": "Goode BL, Eck MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "17373907", "url": "https://glygen.org/publication/PubMed/17373907" } ] }, { "title": "Wnt5a functions in planar cell polarity regulation in mice.", "journal": "Developmental biology", "date": "2007", "authors": "Qian D, Jones C, Rzadzinska A, Mark S, Zhang X, Steel KP, Dai X, Chen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "17433286", "url": "https://glygen.org/publication/PubMed/17433286" } ] }, { "title": "XRab40 and XCullin5 form a ubiquitin ligase complex essential for the noncanonical Wnt pathway.", "journal": "The EMBO journal", "date": "2007", "authors": "Lee RH, Iioka H, Ohashi M, Iemura S, Natsume T, Kinoshita N", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "17627283", "url": "https://glygen.org/publication/PubMed/17627283" } ] }, { "title": "Mechanism of activation of the Formin protein Daam1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Liu W, Sato A, Khadka D, Bharti R, Diaz H, Runnels LW, Habas R", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "18162551", "url": "https://glygen.org/publication/PubMed/18162551" } ] }, { "title": "Ror2 modulates the canonical Wnt signaling in lung epithelial cells through cooperation with Fzd2.", "journal": "BMC molecular biology", "date": "2008", "authors": "Li C, Chen H, Hu L, Xing Y, Sasaki T, Villosis MF, Li J, Nishita M, Minami Y, Minoo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "18215320", "url": "https://glygen.org/publication/PubMed/18215320" } ] }, { "title": "WGEF activates Rho in the Wnt-PCP pathway and controls convergent extension in Xenopus gastrulation.", "journal": "The EMBO journal", "date": "2008", "authors": "Tanegashima K, Zhao H, Dawid IB", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "18256687", "url": "https://glygen.org/publication/PubMed/18256687" } ] }, { "title": "Identification of a conserved Rac-binding site on NADPH oxidases supports a direct GTPase regulatory mechanism.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Kao YY, Gianni D, Bohl B, Taylor RM, Bokoch GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324" } ], "reference": [ { "type": "PubMed", "id": "18347018", "url": "https://glygen.org/publication/PubMed/18347018" } ] }, { "title": "Mammalian Rho GTPases: new insights into their functions from in vivo studies.", "journal": "Nature reviews. Molecular cell biology", "date": "2008", "authors": "Heasman SJ, Ridley AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "18719708", "url": "https://glygen.org/publication/PubMed/18719708" } ] }, { "title": "c-Jun expression, activation and function in neural cell death, inflammation and repair.", "journal": "Journal of neurochemistry", "date": "2008", "authors": "Raivich G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324" } ], "reference": [ { "type": "PubMed", "id": "18793328", "url": "https://glygen.org/publication/PubMed/18793328" } ] }, { "title": "Profilin, a multi-modal regulator of neuronal plasticity.", "journal": "BioEssays : news and reviews in molecular, cellular and developmental biology", "date": "2008", "authors": "Birbach A", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "18798527", "url": "https://glygen.org/publication/PubMed/18798527" } ] }, { "title": "Molecular recognition of corticotropin-releasing factor by its G-protein-coupled receptor CRFR1.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Pioszak AA, Parker NR, Suino-Powell K, Xu HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "18801728", "url": "https://glygen.org/publication/PubMed/18801728" } ] }, { "title": "Myocilin is a modulator of Wnt signaling.", "journal": "Mol. Cell. Biol.", "date": "2009", "authors": "Kwon HS, Lee HS, Ji Y, Rubin JS, Tomarev SI", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "reference": [ { "type": "PubMed", "id": "19188438", "url": "https://glygen.org/publication/PubMed/19188438" } ] }, { "title": "Wnt/Fz signaling and the cytoskeleton: potential roles in tumorigenesis.", "journal": "Cell research", "date": "2009", "authors": "Lai SL, Chien AJ, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "19365405", "url": "https://glygen.org/publication/PubMed/19365405" } ] }, { "title": "Regulation of planar cell polarity by Smurf ubiquitin ligases.", "journal": "Cell", "date": "2009", "authors": "Narimatsu M, Bose R, Pye M, Zhang L, Miller B, Ching P, Sakuma R, Luga V, Roncari L, Attisano L, Wrana JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-4608870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4608870" } ], "reference": [ { "type": "PubMed", "id": "19379695", "url": "https://glygen.org/publication/PubMed/19379695" } ] }, { "title": "Non-redundant roles for Profilin2 and Profilin1 during vertebrate gastrulation.", "journal": "Developmental biology", "date": "2009", "authors": "Khadka DK, Liu W, Habas R", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "19523939", "url": "https://glygen.org/publication/PubMed/19523939" } ] }, { "title": "Ror-family receptor tyrosine kinases in noncanonical Wnt signaling: their implications in developmental morphogenesis and human diseases.", "journal": "Developmental dynamics : an official publication of the American Association of Anatomists", "date": "2010", "authors": "Minami Y, Oishi I, Endo M, Nishita M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "19530173", "url": "https://glygen.org/publication/PubMed/19530173" } ] }, { "title": "Formin-binding proteins: modulators of formin-dependent actin polymerization.", "journal": "Biochimica et biophysica acta", "date": "2010", "authors": "Aspenstrom P", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "19589360", "url": "https://glygen.org/publication/PubMed/19589360" } ] }, { "title": "Ryks: new partners for Wnts in the developing and regenerating nervous system.", "journal": "Trends in neurosciences", "date": "2010", "authors": "Fradkin LG, Dura JM, Noordermeer JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "20004982", "url": "https://glygen.org/publication/PubMed/20004982" } ] }, { "title": "Dishevelled: The hub of Wnt signaling.", "journal": "Cellular signalling", "date": "2010", "authors": "Gao C, Chen YG", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "20006983", "url": "https://glygen.org/publication/PubMed/20006983" } ] }, { "title": "Ror2/Frizzled complex mediates Wnt5a-induced AP-1 activation by regulating Dishevelled polymerization.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Nishita M, Itsukushima S, Nomachi A, Endo M, Wang Z, Inaba D, Qiao S, Takada S, Kikuchi A, Minami Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324" } ], "reference": [ { "type": "PubMed", "id": "20457807", "url": "https://glygen.org/publication/PubMed/20457807" } ] }, { "title": "Rho-kinase/ROCK: A key regulator of the cytoskeleton and cell polarity.", "journal": "Cytoskeleton (Hoboken, N.J.)", "date": "2010", "authors": "Amano M, Nakayama M, Kaibuchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "20803696", "url": "https://glygen.org/publication/PubMed/20803696" } ] }, { "title": "Frizzled 1 and frizzled 2 genes function in palate, ventricular septum and neural tube closure: general implications for tissue fusion processes.", "journal": "Development (Cambridge, England)", "date": "2010", "authors": "Yu H, Smallwood PM, Wang Y, Vidaltamayo R, Reed R, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "20940229", "url": "https://glygen.org/publication/PubMed/20940229" } ] }, { "title": "Structural basis for hormone recognition by the Human CRFR2{alpha} G protein-coupled receptor.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Pal K, Swaminathan K, Xu HE, Pioszak AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "20966082", "url": "https://glygen.org/publication/PubMed/20966082" } ] }, { "title": "Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2.", "journal": "Developmental cell", "date": "2011", "authors": "Gao B, Song H, Bishop K, Elliot G, Garrett L, English MA, Andre P, Robinson J, Sood R, Minami Y, Economides AN, Yang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "21316585", "url": "https://glygen.org/publication/PubMed/21316585" } ] }, { "title": "Planar cell polarity in Drosophila.", "journal": "Organogenesis", "date": "2011", "authors": "Maung SM, Jenny A", "evidence": [ { "database": "Reactome", "id": "R-HSA-4608870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4608870" } ], "reference": [ { "type": "PubMed", "id": "21983142", "url": "https://glygen.org/publication/PubMed/21983142" } ] }, { "title": "The Wnt receptor Ryk plays a role in mammalian planar cell polarity signaling.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Macheda ML, Sun WW, Kugathasan K, Hogan BM, Bower NI, Halford MM, Zhang YF, Jacques BE, Lieschke GJ, Dabdoub A, Stacker SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "22773843", "url": "https://glygen.org/publication/PubMed/22773843" } ] }, { "title": "Tiam1 regulates the Wnt/Dvl/Rac1 signaling pathway and the differentiation of midbrain dopaminergic neurons.", "journal": "Molecular and cellular biology", "date": "2013", "authors": "Cajanek L, Ganji RS, Henriques-Oliveira C, Theofilopoulos S, Konik P, Bryja V, Arenas E", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "23109420", "url": "https://glygen.org/publication/PubMed/23109420" } ] }, { "title": "Planar cell polarity in the inner ear.", "journal": "Current topics in developmental biology", "date": "2012", "authors": "May-Simera H, Kelley MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-4608870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4608870" } ], "reference": [ { "type": "PubMed", "id": "23140627", "url": "https://glygen.org/publication/PubMed/23140627" } ] }, { "title": "Wnt regulation of planar cell polarity (PCP).", "journal": "Current topics in developmental biology", "date": "2012", "authors": "Gao B", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "23140633", "url": "https://glygen.org/publication/PubMed/23140633" } ] }, { "title": "The Wnt coreceptor Ryk regulates Wnt/planar cell polarity by modulating the degradation of the core planar cell polarity component Vangl2.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Andre P, Wang Q, Wang N, Gao B, Schilit A, Halford MM, Stacker SA, Zhang X, Yang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "23144463", "url": "https://glygen.org/publication/PubMed/23144463" } ] }, { "title": "Functional consequences of Wnt-induced dishevelled 2 phosphorylation in canonical and noncanonical Wnt signaling.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Gonzalez-Sancho JM, Greer YE, Abrahams CL, Takigawa Y, Baljinnyam B, Lee KH, Lee KS, Rubin JS, Brown AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "23396967", "url": "https://glygen.org/publication/PubMed/23396967" } ] }, { "title": "The Par3/Par6/aPKC complex and epithelial cell polarity.", "journal": "Experimental cell research", "date": "2013", "authors": "Chen J, Zhang M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4608870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4608870" } ], "reference": [ { "type": "PubMed", "id": "23535009", "url": "https://glygen.org/publication/PubMed/23535009" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O75084", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Gpr125 modulates Dishevelled distribution and planar cell polarity signaling.", "journal": "Development (Cambridge, England)", "date": "2013", "authors": "Li X, Roszko I, Sepich DS, Ni M, Hamm HE, Marlow FL, Solnica-Krezel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "23821037", "url": "https://glygen.org/publication/PubMed/23821037" } ] }, { "title": "Glypican-3 binds to Frizzled and plays a direct role in the stimulation of canonical Wnt signaling.", "journal": "J. Cell Sci.", "date": "2014", "authors": "Capurro M, Martin T, Shi W, Filmus J", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "reference": [ { "type": "PubMed", "id": "24496449", "url": "https://glygen.org/publication/PubMed/24496449" } ] }, { "title": "WNT5A enhances resistance of melanoma cells to targeted BRAF inhibitors.", "journal": "The Journal of clinical investigation", "date": "2014", "authors": "Anastas JN, Kulikauskas RM, Tamir T, Rizos H, Long GV, von Euw EM, Yang PT, Chen HW, Haydu L, Toroni RA, Lucero OM, Chien AJ, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324" } ], "reference": [ { "type": "PubMed", "id": "24865425", "url": "https://glygen.org/publication/PubMed/24865425" } ] }, { "title": "Daple is a novel non-receptor GEF required for trimeric G protein activation in Wnt signaling.", "journal": "eLife", "date": "2015", "authors": "Aznar N, Midde KK, Dunkel Y, Lopez-Sanchez I, Pavlova Y, Marivin A, Barbazan J, Murray F, Nitsche U, Janssen KP, Willert K, Goel A, Abal M, Garcia-Marcos M, Ghosh P", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "reference": [ { "type": "PubMed", "id": "26126266", "url": "https://glygen.org/publication/PubMed/26126266" } ] }, { "title": "Frizzled 7 and PIP2 binding by syntenin PDZ2 domain supports Frizzled 7 trafficking and signalling.", "journal": "Nature communications", "date": "2016", "authors": "Egea-Jimenez AL, Gallardo R, Garcia-Pino A, Ivarsson Y, Wawrzyniak AM, Kashyap R, Loris R, Schymkowitz J, Rousseau F, Zimmermann P", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "reference": [ { "type": "PubMed", "id": "27386966", "url": "https://glygen.org/publication/PubMed/27386966" } ] }, { "title": "Frizzled proteins are colonic epithelial receptors for C. difficile toxin B.", "journal": "Nature", "date": "2016-10-20", "authors": "Tao Liang, Zhang Jie, Meraner Paul, Tovaglieri Alessio, Wu Xiaoqian, Gerhard Ralf, Zhang Xinjun, Stallcup William B, Miao Ji, He Xi, Hurdle Julian G, Breault David T, Brass Abraham L, Dong Min", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "reference": [ { "type": "PubMed", "id": "27680706", "url": "https://glygen.org/publication/PubMed/27680706" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O75084", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "GIPC2 interacts with Fzd7 to promote prostate cancer metastasis by activating WNT signaling.", "journal": "Oncogene", "date": "2022", "authors": "Wang L, Wang J, Yin X, Guan X, Li Y, Xin C, Liu J", "evidence": [ { "database": "RefSeq", "id": "NP_003498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498" } ], "reference": [ { "type": "PubMed", "id": "35347223", "url": "https://glygen.org/publication/PubMed/35347223" } ] }, { "title": "FZD7 accelerates hepatic metastases in pancreatic cancer by strengthening EMT and stemness associated with TGF-beta/SMAD3 signaling.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2022", "authors": "Zhang Z, Xu Y", "evidence": [ { "database": "RefSeq", "id": "NP_003498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498" } ], "reference": [ { "type": "PubMed", "id": "35854234", "url": "https://glygen.org/publication/PubMed/35854234" } ] }, { "title": "An investigation of bacteriocin nisin anti-cancer effects and FZD7 protein interactions in liver cancer cells.", "journal": "Chemico-biological interactions", "date": "2022", "authors": "Balcik-Ercin P, Sever B", "evidence": [ { "database": "RefSeq", "id": "NP_003498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498" } ], "reference": [ { "type": "PubMed", "id": "36084725", "url": "https://glygen.org/publication/PubMed/36084725" } ] }, { "title": "A parathyroid hormone-related protein implicated in malignant hypercalcemia: cloning and expression.", "journal": "Science (New York, N.Y.)", "date": "1987", "authors": "Suva LJ, Winslow GA, Wettenhall RE, Hammonds RG, Moseley JM, Diefenbach-Jagger H, Rodda CP, Kemp BE, Rodriguez H, Chen EY, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "3616618", "url": "https://glygen.org/publication/PubMed/3616618" } ] }, { "title": "MiR-1-3p enhances the sensitivity of ovarian cancer cells to ferroptosis by targeting FZD7.", "journal": "Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences", "date": "2022-11-28", "authors": "Zhang Di, Qu Bin, Hu Bin, Cao Kexin, Shen Haoming", "evidence": [ { "database": "RefSeq", "id": "NP_003498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498" } ], "reference": [ { "type": "PubMed", "id": "36481629", "url": "https://glygen.org/publication/PubMed/36481629" } ] }, { "title": "FZD7: A potential biomarker for endometriosis.", "journal": "Medicine", "date": "2023-10-06", "authors": "Lan Suwei, Zhang Zhengmao, Li Qing", "evidence": [ { "database": "RefSeq", "id": "NP_003498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003498" } ], "reference": [ { "type": "PubMed", "id": "37800830", "url": "https://glygen.org/publication/PubMed/37800830" } ] }, { "title": "Nucleotide sequence of cloned cDNAs encoding human preproparathyroid hormone.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1981", "authors": "Hendy GN, Kronenberg HM, Potts JT Jr, Rich A", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "6950381", "url": "https://glygen.org/publication/PubMed/6950381" } ] }, { "title": "Identification and functional expression of a receptor selectively recognizing parathyroid hormone, the PTH2 receptor.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Usdin TB, Gruber C, Bonner TI", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "7797535", "url": "https://glygen.org/publication/PubMed/7797535" } ] }, { "title": "A C-terminally truncated human parathyroid hormone receptor is functional and activates multiple G proteins.", "journal": "FEBS letters", "date": "1994", "authors": "Schneider H, Feyen JH, Seuwen K", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8082781", "url": "https://glygen.org/publication/PubMed/8082781" } ] }, { "title": "Cloning and structure of the human corticotrophin releasing factor-binding protein gene (CRHBP)", "journal": "Genomics", "date": "1993", "authors": "Behan DP, Potter E, Lewis KA, Jenkins NA, Copeland N, Lowry PJ, Vale WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8198617", "url": "https://glygen.org/publication/PubMed/8198617" } ] }, { "title": "Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor.", "journal": "Endocrinology", "date": "1993", "authors": "Schipani E, Karga H, Karaplis AC, Potts JT Jr, Kronenberg HM, Segre GV, Abou-Samra AB, Juppner H", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8386612", "url": "https://glygen.org/publication/PubMed/8386612" } ] }, { "title": "Cloning and functional expression of a human parathyroid hormone receptor.", "journal": "European journal of pharmacology", "date": "1993", "authors": "Schneider H, Feyen JH, Seuwen K, Movva NR", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8397094", "url": "https://glygen.org/publication/PubMed/8397094" } ] }, { "title": "Corticotropin releasing factor (CRF) binding protein: a novel regulator of CRF and related peptides.", "journal": "Frontiers in neuroendocrinology", "date": "1995", "authors": "Behan DP, De Souza EB, Lowry PJ, Potter E, Sawchenko P, Vale WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8557170", "url": "https://glygen.org/publication/PubMed/8557170" } ] }, { "title": "Cloning and characterization of human urocortin.", "journal": "Endocrinology", "date": "1996", "authors": "Donaldson CJ, Sutton SW, Perrin MH, Corrigan AZ, Lewis KA, Rivier JE, Vaughan JM, Vale WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8612563", "url": "https://glygen.org/publication/PubMed/8612563" } ] }, { "title": "G alpha q family members couple parathyroid hormone (PTH)/PTH-related peptide and calcitonin receptors to phospholipase C in COS-7 cells.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1996", "authors": "Offermanns S, Iida-Klein A, Segre GV, Simon MI", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8732687", "url": "https://glygen.org/publication/PubMed/8732687" } ] }, { "title": "The human PTH2 receptor: binding and signal transduction properties of the stably expressed recombinant receptor.", "journal": "Endocrinology", "date": "1996", "authors": "Behar V, Pines M, Nakamoto C, Greenberg Z, Bisello A, Stueckle SM, Bessalle R, Usdin TB, Chorev M, Rosenblatt M, Suva LJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8770894", "url": "https://glygen.org/publication/PubMed/8770894" } ] }, { "title": "The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog.", "journal": "Nature", "date": "1996", "authors": "Stone DM, Hynes M, Armanini M, Swanson TA, Gu Q, Johnson RL, Scott MP, Pennica D, Goddard A, Phillips H, Noll M, Hooper JE, de Sauvage F, Rosenthal A", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "8906787", "url": "https://glygen.org/publication/PubMed/8906787" } ] }, { "title": "Roles for Rac1 and Cdc42 in planar polarization and hair outgrowth in the wing of Drosophila.", "journal": "The Journal of cell biology", "date": "1996", "authors": "Eaton S, Wepf R, Simons K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324" } ], "reference": [ { "type": "PubMed", "id": "8947551", "url": "https://glygen.org/publication/PubMed/8947551" } ] }, { "title": "The seven-span transmembrane receptor CD97 has a cellular ligand (CD55, DAF).", "journal": "The Journal of experimental medicine", "date": "1996", "authors": "Hamann J, Vogel B, van Schijndel GM, van Lier RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "9064337", "url": "https://glygen.org/publication/PubMed/9064337" } ] }, { "title": "The small GTP-binding protein Cdc42 is required for nerve growth factor withdrawal-induced neuronal death.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Bazenet CE, Mota MA, Rubin LL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9673324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324" } ], "reference": [ { "type": "PubMed", "id": "9520479", "url": "https://glygen.org/publication/PubMed/9520479" } ] }, { "title": "Dishevelled activates JNK and discriminates between JNK pathways in planar polarity and wingless signaling.", "journal": "Cell", "date": "1998", "authors": "Boutros M, Paricio N, Strutt DI, Mlodzik M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "9674432", "url": "https://glygen.org/publication/PubMed/9674432" } ] }, { "title": "A novel frizzled gene identified in human esophageal carcinoma mediates APC/beta-catenin signals.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1998", "authors": "Tanaka S, Akiyoshi T, Mori M, Wands J R, Sugimachi K", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "reference": [ { "type": "PubMed", "id": "9707618", "url": "https://glygen.org/publication/PubMed/9707618" } ] }, { "title": "Differential recruitment of Dishevelled provides signaling specificity in the planar cell polarity and Wingless signaling pathways.", "journal": "Genes & development", "date": "1998", "authors": "Axelrod JD, Miller JR, Shulman JM, Moon RT, Perrimon N", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086400", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400" } ], "reference": [ { "type": "PubMed", "id": "9716412", "url": "https://glygen.org/publication/PubMed/9716412" } ] }, { "title": "Molecular cloning, differential expression, and chromosomal localization of human frizzled-1, frizzled-2, and frizzled-7.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1998", "authors": "Sagara N, Toda G, Hirai M, Terada M, Katoh M", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "reference": [ { "type": "PubMed", "id": "9813155", "url": "https://glygen.org/publication/PubMed/9813155" } ] } ], "pathway": [ { "id": "hsa:8324", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8324", "resource": "KEGG Pathway" }, { "id": "R-HSA-373080", "name": "Class B/2 (Secretin family receptors)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080", "resource": "Reactome", "description": "Class B/2 (Secretin family receptors)" }, { "id": "R-HSA-4086400", "name": "PCP/CE pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086400", "resource": "Reactome", "description": "PCP/CE pathway" }, { "id": "R-HSA-4608870", "name": "Asymmetric localization of PCP proteins", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4608870", "resource": "Reactome", "description": "Asymmetric localization of PCP proteins" }, { "id": "R-HSA-9673324", "name": "WNT5:FZD7-mediated leishmania damping", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9673324", "resource": "Reactome", "description": "WNT5:FZD7-mediated leishmania damping" } ], "orthologs": [ { "uniprot_canonical_ac": "D4ACM8-1", "protein_name": "Frizzled class receptor 7", "gene_name": "Fzd7", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRGPGTEASHSPLGLCALVLALLGALPTDTGAQPYHGEKGISVPDHGFCQPISIPLCTDIAYNQTILPNLLGHTNQEDAGLEVHQFYPLVKVQCSPELRFFLCSMYAPVCTVLDQAIPPCRSLCERARQGCEALMNKFGFQWPERLRCENFPVHGAGEICVGQNTSDGSGGAGGSPTAYPTAPYLPDPPFTAMSPSDGRGRWSFPFSCPRQLKVPPYLGYRFLGERDCGAPCEPGRANGLMYFKEEERRFARLWVGVWSVLCCASTLFTVLTYLVDMRRFSYPERPIIFLSGCYFMVAVAHVAGFLLEDRAVCVERFSDDGYRTVAQGTKKEGCTILFMVLYFFGMASSIWWVILSLTWFLAAGMKWGHEAIEANSQYFHLAAWAVPAVKTITILAMGQVDGDLLSGVCYVGLSSVDALRGFVLAPLFVYLFIGTSFLLAGFVSLFRIRTIMKHDGTKTEKLEKLMVRIGVFSVLYTVPATIVLACYFYEQAFREHWERTWLLQTCKSYAVPCPPGHFSPMSPDFTVFMIKYLMTMIVGITTGFWIWSGKTLQSWRRFYHRLSHSSKGETAV", "length": 572 }, "evidence": [ { "id": "45916797", "url": "http://www.informatics.jax.org/homology/45916797", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q61090-1", "protein_name": "Frizzled-7", "gene_name": "Fzd7", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRGPGTAASHSPLGLCALVLALLGALPTDTRAQPYHGEKGISVPDHGFCQPISIPLCTDIAYNQTILPNLLGHTNQEDAGLEVHQFYPLVKVQCSPELRFFLCSMYAPVCTVLDQAIPPCRSLCERARQGCEALMNKFGFQWPERLRCENFPVHGAGEICVGQNTSDGSGGAGGSPTAYPTAPYLPDPPFTAMSPSDGRGRLSFPFSCPRQLKVPPYLGYRFLGERDCGAPCEPGRANGLMYFKEEERRFARLWVGVWSVLCCASTLFTVLTYLVDMRRFSYPERPIIFLSGCYFMVAVAHVAGFLLEDRAVCVERFSDDGYRTVAQGTKKEGCTILFMVLYFFGMASSIWWVILSLTWFLAAGMKWGHEAIEANSQYFHLAAWAVPAVKTITILAMGQVDGDLLSGVCYVGLSSVDALRGFVLAPLFVYLFIGTSFLLAGFVSLFRIRTIMKHDGTKTEKLEKLMVRIGVFSVLYTVPATIVLACYFYEQAFREHWERTWLLQTCKSYAVPCPPGHFSPMSPDFTVFMIKYLMTMIVGITTGFWIWSGKTLQSWRRFYHRLSHSSKGETAV", "length": 572 }, "evidence": [ { "id": "45916797", "url": "http://www.informatics.jax.org/homology/45916797", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "frizzled binding", "id": "GO:0005109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005109", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "Wnt-protein binding", "id": "GO:0017147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017147", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "Wnt receptor activity", "id": "GO:0042813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042813", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 21, "go_terms": [ { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "Wnt signaling pathway, planar cell polarity pathway", "id": "GO:0060071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060071", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "negative regulation of cell-substrate adhesion", "id": "GO:0010812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010812", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "somatic stem cell division", "id": "GO:0048103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048103", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration", "id": "GO:0014834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014834", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation involved in wound healing", "id": "GO:0060054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060054", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell differentiation", "id": "GO:2000726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000726", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "mesenchymal to epithelial transition", "id": "GO:0060231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060231", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" }, { "name": "negative regulation of ectodermal cell fate specification", "id": "GO:0042666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042666", "evidence": [ { "database": "UniProtKB", "id": "O75084", "url": "https://www.uniprot.org/uniprot/O75084" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "frizzled-7 O-glycosylated 1 (human)", "definition": "A frizzled-7 (human) that has been O-glycosylated at the residue equivalent to Thr-191 of the amino acid sequence represented by UniProtKB:O75084-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75084-1, Thr-191, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050815", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050815" } ] } ], "site_annotation": [ { "start_pos": 164, "end_pos": 166, "annotation": "n_glycosylation_sequon" }, { "start_pos": 63, "end_pos": 65, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 63, 164 ], "o_linked_sites": [ 36, 42, 191 ], "snv_sites": [ 63, 65, 166, 191, 526, 548, 565 ], "glycation_sites": [], "phosphorylation_sites": [ 550, 556 ], "sequon_annotation_sites": [ { "start_pos": 164, "end_pos": 166 }, { "start_pos": 63, "end_pos": 65 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 105 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }