[ { "title": "Screening of mutations in NOL3 in a myoclonic syndromes series.", "journal": "Journal of neurology", "date": "2014", "authors": "Macerollo A, Mencacci NE, Erro R, Cordivari C, Edwards MJ, Wood NW, Bhatia KP", "reference": { "type": "PubMed", "id": "25138476", "url": "https://pubmed.ncbi.nlm.nih.gov/25138476" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60936-2", "protein_name": "Nucleolar protein 3", "gene_name": "NOL3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprotkb/O60936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25138476", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Apoptosis repressor with caspase recruitment domain promotes cell proliferation and phenotypic modulation through 14-3-3epsilon/YAP signaling in vascular smooth muscle cells.", "journal": "Journal of molecular and cellular cardiology", "date": "2020", "authors": "Liu M, Yu T, Li M, Fang X, Hou B, Liu G, Wang J", "reference": { "type": "PubMed", "id": "32771410", "url": "https://pubmed.ncbi.nlm.nih.gov/32771410" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60936-2", "protein_name": "Nucleolar protein 3", "gene_name": "NOL3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprotkb/O60936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32771410", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "ARC Is a Critical Protector against Inflammatory Bowel Disease (IBD) and IBD-Associated Colorectal Tumorigenesis.", "journal": "Cancer research", "date": "2020", "authors": "Wang Q, Zhang T, Chang X, Lim DY, Wang K, Bai R, Wang T, Ryu J, Chen H, Yao K, Ma WY, Boardman LA, Bode AM, Dong Z", "reference": { "type": "PubMed", "id": "32816906", "url": "https://pubmed.ncbi.nlm.nih.gov/32816906" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60936-2", "protein_name": "Nucleolar protein 3", "gene_name": "NOL3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprotkb/O60936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32816906", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Expression of apoptosis repressor with caspase recruitment domain (ARC) in familial adenomatous polyposis (FAP) adenomas and its correlation with DNA mismatch repair proteins, p53, Bcl-2, COX-2 and beta-catenin.", "journal": "Cell communication and signaling : CCS", "date": "2021", "authors": "Roser C, Toth C, Renner M, Herpel E, Schirmacher P", "reference": { "type": "PubMed", "id": "33579312", "url": "https://pubmed.ncbi.nlm.nih.gov/33579312" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60936-2", "protein_name": "Nucleolar protein 3", "gene_name": "NOL3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprotkb/O60936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33579312", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.", "journal": "American journal of human genetics", "date": "2013", "authors": "Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA", "reference": { "type": "PubMed", "id": "23261302", "url": "https://pubmed.ncbi.nlm.nih.gov/23261302" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96M63-1", "protein_name": "Outer dynein arm-docking complex subunit 1", "gene_name": "ODAD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96M63", "url": "https://www.uniprot.org/uniprotkb/Q96M63" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23261302", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.", "journal": "American journal of human genetics", "date": "2013", "authors": "Onoufriadis A, Paff T, Antony D, Shoemark A, Micha D, Kuyt B, Schmidts M, Petridi S, Dankert-Roelse JE, Haarman EG, Daniels JM, Emes RD, Wilson R, Hogg C, Scambler PJ, Chung EM, Pals G, Mitchison HM", "reference": { "type": "PubMed", "id": "23261303", "url": "https://pubmed.ncbi.nlm.nih.gov/23261303" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96M63-1", "protein_name": "Outer dynein arm-docking complex subunit 1", "gene_name": "ODAD1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q3UX62-1", "protein_name": "Outer dynein arm-docking complex subunit 1", "gene_name": "Odad1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96M63", "url": "https://www.uniprot.org/uniprotkb/Q96M63" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23261303", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects.", "journal": "Am. J. Hum. Genet.", "date": "2018", "authors": "Loges NT, Antony D, Maver A, Deardorff MA, Gulec EY, Gezdirici A, Nothe-Menchen T, Hoben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Cuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M", "reference": { "type": "PubMed", "id": "30471718", "url": "https://pubmed.ncbi.nlm.nih.gov/30471718" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96M63-1", "protein_name": "Outer dynein arm-docking complex subunit 1", "gene_name": "ODAD1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYC9-1", "protein_name": "Dynein axonemal heavy chain 9", "gene_name": "DNAH9", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96M63", "url": "https://www.uniprot.org/uniprotkb/Q96M63" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30471718", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.", "journal": "International journal of molecular sciences", "date": "2022", "authors": "Ostrowski LE, Yin W, Smith AJ, Sears PR, Bustamante-Marin XM, Dang H, Hildebrandt F, Daniels LA, Capps NA, Sullivan KM, Leigh MW, Zariwala MA, Knowles MR", "reference": { "type": "PubMed", "id": "35163670", "url": "https://pubmed.ncbi.nlm.nih.gov/35163670" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96M63-1", "protein_name": "Outer dynein arm-docking complex subunit 1", "gene_name": "ODAD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96M63", "url": "https://www.uniprot.org/uniprotkb/Q96M63" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35163670", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.", "journal": "American journal of medical genetics. Part C, Seminars in medical genetics", "date": "2022", "authors": "Kos R, Israels J, van Gogh CDL, Altenburg J, Diepenhorst S, Paff T, Boon EMJ, Micha D, Pals G, Neerincx AH, Maitland-van der Zee AH, Haarman EG", "reference": { "type": "PubMed", "id": "35343062", "url": "https://pubmed.ncbi.nlm.nih.gov/35343062" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96M63-1", "protein_name": "Outer dynein arm-docking complex subunit 1", "gene_name": "ODAD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96M63", "url": "https://www.uniprot.org/uniprotkb/Q96M63" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35343062", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification and comparison of residues critical for cell-adhesion activities of two neutrophil CD66 antigens, CEACAM6 and CEACAM8.", "journal": "Journal of leukocyte biology", "date": "2001", "authors": "Kuroki M, Abe H, Imakiirei T, Liao S, Uchida H, Yamauchi Y, Oikawa S, Kuroki M", "reference": { "type": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31997-1", "protein_name": "Cell adhesion molecule CEACAM8", "gene_name": "CEACAM8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 55, "end_pos": 55, "sequence_org": "A", "sequence_mut": "V", "comment": "No effect on homophilic and heterophilic cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" }, { "database": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" } ], "uniprot_canonical_ac": "P40199-1" }, { "start_pos": 61, "end_pos": 61, "sequence_org": "N", "sequence_mut": "H", "comment": "Inhibits homophilic and heterophilic cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" }, { "database": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" } ], "uniprot_canonical_ac": "P40199-1" }, { "start_pos": 62, "end_pos": 62, "sequence_org": "R", "sequence_mut": "L", "comment": "No effect on homophilic cell adhesion. Reduces heterophilic cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" }, { "database": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" } ], "uniprot_canonical_ac": "P40199-1" }, { "start_pos": 63, "end_pos": 63, "sequence_org": "I", "sequence_mut": "F", "comment": "No effect on homophilic cell adhesion. Inhibits heterophilic cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" }, { "database": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" } ], "uniprot_canonical_ac": "P40199-1" }, { "start_pos": 66, "end_pos": 66, "sequence_org": "S", "sequence_mut": "N", "comment": "Inhibits homophilic cell adhesion. Reduces heterophilic cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" }, { "database": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" } ], "uniprot_canonical_ac": "P40199-1" }, { "start_pos": 78, "end_pos": 78, "sequence_org": "L", "sequence_mut": "Q", "comment": "Inhibits homophilic cell adhesion. No effect on heterophilic cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" }, { "database": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" } ], "uniprot_canonical_ac": "P40199-1" }, { "start_pos": 40, "end_pos": 45, "sequence_org": "AVPSNA", "sequence_mut": "STPFNV", "comment": "No effect on heterophilic cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P31997", "url": "https://www.uniprot.org/uniprotkb/P31997" }, { "database": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" } ], "uniprot_canonical_ac": "P31997-1" }, { "start_pos": 61, "end_pos": 63, "sequence_org": "DPR", "sequence_mut": "NRI", "comment": "No effect on heterophilic cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P31997", "url": "https://www.uniprot.org/uniprotkb/P31997" }, { "database": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" } ], "uniprot_canonical_ac": "P31997-1" }, { "start_pos": 66, "end_pos": 66, "sequence_org": "N", "sequence_mut": "S", "comment": "Inhibits heterophilic cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P31997", "url": "https://www.uniprot.org/uniprotkb/P31997" }, { "database": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" } ], "uniprot_canonical_ac": "P31997-1" }, { "start_pos": 72, "end_pos": 75, "sequence_org": "TVDA", "sequence_mut": "RVDG", "comment": "No effect on heterophilic cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P31997", "url": "https://www.uniprot.org/uniprotkb/P31997" }, { "database": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" } ], "uniprot_canonical_ac": "P31997-1" }, { "start_pos": 78, "end_pos": 78, "sequence_org": "R", "sequence_mut": "Q", "comment": "Inhibits heterophilic cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P31997", "url": "https://www.uniprot.org/uniprotkb/P31997" }, { "database": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" } ], "uniprot_canonical_ac": "P31997-1" }, { "start_pos": 85, "end_pos": 89, "sequence_org": "SNQQI", "sequence_mut": "GTQQA", "comment": "No effect on heterophilic cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P31997", "url": "https://www.uniprot.org/uniprotkb/P31997" }, { "database": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" } ], "uniprot_canonical_ac": "P31997-1" }, { "start_pos": 97, "end_pos": 97, "sequence_org": "N", "sequence_mut": "G", "comment": "No effect on heterophilic cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "P31997", "url": "https://www.uniprot.org/uniprotkb/P31997" }, { "database": "PubMed", "id": "11590190", "url": "https://pubmed.ncbi.nlm.nih.gov/11590190" } ], "uniprot_canonical_ac": "P31997-1" } ], "record_id": "pubmed.11590190", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "CD66 nonspecific cross-reacting antigens are involved in neutrophil adherence to cytokine-activated endothelial cells.", "journal": "The Journal of cell biology", "date": "1992-07", "authors": "Kuijpers T W, Hoogerwerf M, van der Laan L J, Nagel G, van der Schoot C E, Grunert F, Roos D", "reference": { "type": "PubMed", "id": "1378450", "url": "https://pubmed.ncbi.nlm.nih.gov/1378450" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1378450", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Expression of CEACAM6 in resectable colorectal cancer: a factor of independent prognostic significance.", "journal": "Journal of clinical oncology : official journal of the American Society of Clinical Oncology", "date": "2003", "authors": "Jantscheff P, Terracciano L, Lowy A, Glatz-Krieger K, Grunert F, Micheel B, Brummer J, Laffer U, Metzger U, Herrmann R, Rochlitz C", "reference": { "type": "PubMed", "id": "14512395", "url": "https://pubmed.ncbi.nlm.nih.gov/14512395" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14512395", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "CEACAM6 gene silencing impairs anoikis resistance and in vivo metastatic ability of pancreatic adenocarcinoma cells.", "journal": "Oncogene", "date": "2004", "authors": "Duxbury Mark S, Ito Hiromichi, Zinner Michael J, Ashley Stanley W, Whang Edward E", "reference": { "type": "PubMed", "id": "14724575", "url": "https://pubmed.ncbi.nlm.nih.gov/14724575" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14724575", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Inhibition of adhesion, invasion, and metastasis by antibodies targeting CEACAM6 (NCA-90) and CEACAM5 (Carcinoembryonic Antigen).", "journal": "Cancer research", "date": "2005-10-01", "authors": "Blumenthal Rosalyn D, Hansen Hans J, Goldenberg David M", "reference": { "type": "PubMed", "id": "16204051", "url": "https://pubmed.ncbi.nlm.nih.gov/16204051" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16204051", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A specific heterotypic cell adhesion activity between members of carcinoembryonic antigen family, W272 and NCA, is mediated by N-domains.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Oikawa S, Inuzuka C, Kuroki M, Arakawa F, Matsuoka Y, Kosaki G, Nakazato H", "reference": { "type": "PubMed", "id": "2022629", "url": "https://pubmed.ncbi.nlm.nih.gov/2022629" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31997-1", "protein_name": "Cell adhesion molecule CEACAM8", "gene_name": "CEACAM8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2022629", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of a cDNA clone for the nonspecific cross-reacting antigen (NCA) and a comparison of NCA and carcinoembryonic antigen.", "journal": "J. Biol. Chem.", "date": "1988", "authors": "Neumaier M, Zimmermann W, Shively L, Hinoda Y, Riggs A D, Shively J E", "reference": { "type": "PubMed", "id": "2830274", "url": "https://pubmed.ncbi.nlm.nih.gov/2830274" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2830274", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Carcinoembryonic antigen-related cell adhesion molecule 6 (CEACAM6) promotes EGF receptor signaling of oral squamous cell carcinoma metastasis via the complex N-glycosylation.", "journal": "Oncogene", "date": "2018", "authors": "Chiang WF, Cheng TM, Chang CC, Pan SH, Changou CA, Chang TH, Lee KH, Wu SY, Chen YF, Chuang KH, Shieh DB, Chen YL, Tu CC, Tsui WL, Wu MH", "reference": { "type": "PubMed", "id": "28892050", "url": "https://pubmed.ncbi.nlm.nih.gov/28892050" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=9RCS&bu=0&command=select+.A:256;+center+selection;+zoom+selection" }, "start_pos": 256, "start_aa": "Asn", "end_pos": 256, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn256", "evidence": [ { "id": "P40199", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P40199#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" }, { "id": "28892050", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/28892050" }, { "id": "GLY_000481", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000481" }, { "id": "9RCS", "database": "PDB", "url": "https://www.rcsb.org/structure/9RCS" }, { "id": "9RCU", "database": "PDB", "url": "https://www.rcsb.org/structure/9RCU" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ], "filter_code": "001000000000000000000.00010000000000.00.01001", "uniprot_canonical_ac": "P40199-1" } ], "record_id": "pubmed.28892050", "abstract": "", "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 1 }, { "field": "exact_n_linked_sites", "count": 1 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "icn3d_view.label", "icn3d_view.url", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "mining_tool", "filter_code", "uniprot_canonical_ac" ] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 1 }, { "field": "exact_n_linked_sites", "count": 1 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "icn3d_view.label", "icn3d_view.url", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "mining_tool", "filter_code", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_sites", "count": 1 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 1 }, { "field": "exact_n_linked_sites", "count": 1 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "icn3d_view.label", "icn3d_view.url", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "mining_tool", "filter_code", "uniprot_canonical_ac" ] } ] }, { "title": "Primary structure of nonspecific crossreacting antigen (NCA), a member of carcinoembryonic antigen (CEA) gene family, deduced from cDNA sequence.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1988", "authors": "Tawaragi Y, Oikawa S, Matsuoka Y, Kosaki G, Nakazato H", "reference": { "type": "PubMed", "id": "3337731", "url": "https://pubmed.ncbi.nlm.nih.gov/3337731" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3337731", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Retraction Note: CEACAM6 gene silencing impairs anoikis resistance and in vivo metastatic ability of pancreatic adenocarcinoma cells.", "journal": "Oncogene", "date": "2023", "authors": "Duxbury Mark S, Ito Hiromichi, Zinner Michael J, Ashley Stanley W, Whang Edward E", "reference": { "type": "PubMed", "id": "36765147", "url": "https://pubmed.ncbi.nlm.nih.gov/36765147" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36765147", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Aldolase B-driven lactagenesis and CEACAM6 activation promote cell renewal and chemoresistance in colorectal cancer through the Warburg effect.", "journal": "Cell death & disease", "date": "2023-10-10", "authors": "Chu Yu-De, Cheng Li-Chun, Lim Siew-Na, Lai Ming-Wei, Yeh Chau-Ting, Lin Wey-Ran", "reference": { "type": "PubMed", "id": "37816733", "url": "https://pubmed.ncbi.nlm.nih.gov/37816733" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05062-1", "protein_name": "Fructose-bisphosphate aldolase B", "gene_name": "ALDOB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37816733", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The emerging roles of CEACAM6 in human cancer (Review).", "journal": "International journal of oncology", "date": "2024-03", "authors": "Wu Guanhua, Wang Da, Xiong Fei, Wang Qi, Liu Wenzheng, Chen Junsheng, Chen Yongjun", "reference": { "type": "PubMed", "id": "38240103", "url": "https://pubmed.ncbi.nlm.nih.gov/38240103" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38240103", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "CEACAM6 Promotes Lung Metastasis via Enhancing Proliferation, Migration and Suppressing Apoptosis of Prostate Cancer Cells.", "journal": "Cancer genomics & proteomics", "date": "2024", "authors": "Saraji Alireza, Wulf Katharina, Stegmann-Frehse Janine, Kang Duan, Offermann Anne, Shaghoyan Gevorg, Jonigk Danny, K\u00fchnel Mark Philipp, Perner Sven, Kirfel Jutta, Sailer Verena", "reference": { "type": "PubMed", "id": "38944419", "url": "https://pubmed.ncbi.nlm.nih.gov/38944419" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38944419", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Preparation and characterization of two human carcinoembryonic antigen family proteins of neutrophils, CD66b and c, in silkworm larvae.", "journal": "Protein expression and purification", "date": "1996", "authors": "Yamanaka T, Kuroki M, Kinugasa T, Matsuo Y, Matsuoka Y", "reference": { "type": "PubMed", "id": "8776764", "url": "https://pubmed.ncbi.nlm.nih.gov/8776764" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40199-1", "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31997-1", "protein_name": "Cell adhesion molecule CEACAM8", "gene_name": "CEACAM8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40199", "url": "https://www.uniprot.org/uniprotkb/P40199" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8776764", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The human kinetochore proteins Nnf1R and Mcm21R are required for accurate chromosome segregation.", "journal": "The EMBO journal", "date": "2006-09-06", "authors": "McAinsh Andrew D, Meraldi Patrick, Draviam Viji M, Toso Alberto, Sorger Peter K", "reference": { "type": "PubMed", "id": "16932742", "url": "https://pubmed.ncbi.nlm.nih.gov/16932742" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BU64-1", "protein_name": "Centromere protein O", "gene_name": "CENPO", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BU64", "url": "https://www.uniprot.org/uniprotkb/Q9BU64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16932742", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Differential requirements for the CENP-O complex reveal parallel PLK1 kinetochore recruitment pathways.", "journal": "Molecular biology of the cell", "date": "2021", "authors": "Nguyen AL, Fadel MD, Cheeseman IM", "reference": { "type": "PubMed", "id": "33596090", "url": "https://pubmed.ncbi.nlm.nih.gov/33596090" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BU64-1", "protein_name": "Centromere protein O", "gene_name": "CENPO", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BU64", "url": "https://www.uniprot.org/uniprotkb/Q9BU64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33596090", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Prognostic and immune infiltrative biomarkers of CENPO in pan-cancer and its relationship with lung adenocarcinoma cell proliferation and metastasis.", "journal": "BMC cancer", "date": "2023-08-09", "authors": "Wang Yuanbiao, Ye Daowen, Li Ying, Lv Fenghong, Shen Wanbo, Li Hui, Tian Linghan, Fan Zongling, Li Yanling, Wang Yan, Li Feng, Chen Yan", "reference": { "type": "PubMed", "id": "37558987", "url": "https://pubmed.ncbi.nlm.nih.gov/37558987" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BU64-1", "protein_name": "Centromere protein O", "gene_name": "CENPO", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BU64", "url": "https://www.uniprot.org/uniprotkb/Q9BU64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37558987", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "High expression levels of centromere protein O participates in cell proliferation of human ovarian cancer.", "journal": "Journal of ovarian research", "date": "2024-06-18", "authors": "Si Li-Hui, Sun Guang-Chao, Liu Zi-Wei, Gu Shi-Yu, Yan Chu-Han, Xu Jin-Yuan, Jia Yan", "reference": { "type": "PubMed", "id": "38890751", "url": "https://pubmed.ncbi.nlm.nih.gov/38890751" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BU64-1", "protein_name": "Centromere protein O", "gene_name": "CENPO", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BU64", "url": "https://www.uniprot.org/uniprotkb/Q9BU64" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38890751", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cutting edge: human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Tangye SG, Lazetic S, Woollatt E, Sutherland GR, Lanier LL, Phillips JH", "reference": { "type": "PubMed", "id": "10358138", "url": "https://pubmed.ncbi.nlm.nih.gov/10358138" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10358138", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Activating interactions in human NK cell recognition: the role of 2B4-CD48.", "journal": "European journal of immunology", "date": "1999-05", "authors": "Nakajima H, Cella M, Langen H, Friedlein A, Colonna M", "reference": { "type": "PubMed", "id": "10359122", "url": "https://pubmed.ncbi.nlm.nih.gov/10359122" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10359122", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Molecular characterization of a novel human natural killer cell receptor homologous to mouse 2B4.", "journal": "Tissue Antigens", "date": "1999", "authors": "Boles KS, Nakajima H, Colonna M, Chuang SS, Stepp SE, Bennett M, Kumar V, Mathew PA", "reference": { "type": "PubMed", "id": "10458320", "url": "https://pubmed.ncbi.nlm.nih.gov/10458320" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10458320", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Molecular cloning and biological characterization of NK cell activation-inducing ligand, a counterstructure for CD48.", "journal": "Eur. J. Immunol.", "date": "1999", "authors": "Kubin M Z, Parshley D L, Din W, Waugh J Y, Davis-Smith T, Smith C A, Macduff B M, Armitage R J, Chin W, Cassiano L, Borges L, Petersen M, Trinchieri G, Goodwin R G", "reference": { "type": "PubMed", "id": "10556801", "url": "https://pubmed.ncbi.nlm.nih.gov/10556801" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10556801", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "2B4 functions as a co-receptor in human NK cell activation.", "journal": "European journal of immunology", "date": "2000-03", "authors": "Sivori S, Parolini S, Falco M, Marcenaro E, Biassoni R, Bottino C, Moretta L, Moretta A", "reference": { "type": "PubMed", "id": "10741393", "url": "https://pubmed.ncbi.nlm.nih.gov/10741393" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10741393", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells.", "journal": "The Journal of experimental medicine", "date": "2000-08-07", "authors": "Parolini S, Bottino C, Falco M, Augugliaro R, Giliani S, Franceschini R, Ochs H D, Wolf H, Bonnefoy J Y, Biassoni R, Moretta L, Notarangelo L D, Moretta A", "reference": { "type": "PubMed", "id": "10934222", "url": "https://pubmed.ncbi.nlm.nih.gov/10934222" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10934222", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structure of the human natural killer cell receptor 2B4 gene and identification of a novel alternative transcript.", "journal": "Immunogenetics", "date": "2000", "authors": "Kumaresan P R, Mathew P A", "reference": { "type": "PubMed", "id": "11003394", "url": "https://pubmed.ncbi.nlm.nih.gov/11003394" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11003394", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "NK cell inhibitory receptors prevent tyrosine phosphorylation of the activation receptor 2B4 (CD244).", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2000", "authors": "Watzl C, Stebbins CC, Long EO", "reference": { "type": "PubMed", "id": "11034353", "url": "https://pubmed.ncbi.nlm.nih.gov/11034353" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11034353", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The activatory receptor 2B4 is expressed in vivo by human CD8+ effector alpha beta T cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2001-12-01", "authors": "Speiser D E, Colonna M, Ayyoub M, Cella M, Pittet M J, Batard P, Valmori D, Guillaume P, Li\u00e9nard D, Cerottini J C, Romero P", "reference": { "type": "PubMed", "id": "11714776", "url": "https://pubmed.ncbi.nlm.nih.gov/11714776" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11714776", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Association of the X-linked lymphoproliferative disease gene product SAP/SH2D1A with 2B4, a natural killer cell-activating molecule, is dependent on phosphoinositide 3-kinase.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Aoukaty Ala, Tan Rusung", "reference": { "type": "PubMed", "id": "11815622", "url": "https://pubmed.ncbi.nlm.nih.gov/11815622" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11815622", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Early expression of triggering receptors and regulatory role of 2B4 in human natural killer cell precursors undergoing in vitro differentiation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002-04-02", "authors": "Sivori Simona, Falco Michela, Marcenaro Emanuela, Parolini Silvia, Biassoni Roberto, Bottino Cristina, Moretta Lorenzo, Moretta Alessandro", "reference": { "type": "PubMed", "id": "11917118", "url": "https://pubmed.ncbi.nlm.nih.gov/11917118" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11917118", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Molecular basis for positive and negative signaling by the natural killer cell receptor 2B4 (CD244).", "journal": "Blood", "date": "2005", "authors": "Eissmann P, Beauchamp L, Wooters J, Tilton JC, Long EO, Watzl C", "reference": { "type": "PubMed", "id": "15713798", "url": "https://pubmed.ncbi.nlm.nih.gov/15713798" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06241-1", "protein_name": "Tyrosine-protein kinase Fyn", "gene_name": "FYN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 271, "end_pos": 271, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" }, { "database": "PubMed", "id": "15713798", "url": "https://pubmed.ncbi.nlm.nih.gov/15713798" }, { "database": "PubMed", "id": "12458214", "url": "https://pubmed.ncbi.nlm.nih.gov/12458214" }, { "database": "PubMed", "id": "26221972", "url": "https://pubmed.ncbi.nlm.nih.gov/26221972" }, { "database": "iPTMnet", "id": "Q9BZW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BZW8" } ], "site_lbl": "Tyr271", "uniprot_canonical_ac": "Q9BZW8-1" }, { "start_pos": 297, "end_pos": 297, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by FYN", "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" }, { "database": "iPTMnet", "id": "Q9BZW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BZW8" }, { "database": "PubMed", "id": "15713798", "url": "https://pubmed.ncbi.nlm.nih.gov/15713798" }, { "database": "PubMed", "id": "26221972", "url": "https://pubmed.ncbi.nlm.nih.gov/26221972" }, { "database": "PubMed", "id": "12458214", "url": "https://pubmed.ncbi.nlm.nih.gov/12458214" } ], "site_lbl": "Tyr297", "uniprot_canonical_ac": "Q9BZW8-1" }, { "start_pos": 317, "end_pos": 317, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" }, { "database": "PubMed", "id": "15713798", "url": "https://pubmed.ncbi.nlm.nih.gov/15713798" }, { "database": "PubMed", "id": "12458214", "url": "https://pubmed.ncbi.nlm.nih.gov/12458214" }, { "database": "iPTMnet", "id": "Q9BZW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BZW8" } ], "site_lbl": "Tyr317", "uniprot_canonical_ac": "Q9BZW8-1" }, { "start_pos": 342, "end_pos": 342, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by FYN", "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" }, { "database": "IntAct", "id": "Q9BZW8", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9BZW8*" }, { "database": "iPTMnet", "id": "Q9BZW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BZW8" }, { "database": "PubMed", "id": "16177062", "url": "https://pubmed.ncbi.nlm.nih.gov/16177062" }, { "database": "PubMed", "id": "15713798", "url": "https://pubmed.ncbi.nlm.nih.gov/15713798" }, { "database": "PubMed", "id": "12458214", "url": "https://pubmed.ncbi.nlm.nih.gov/12458214" } ], "site_lbl": "Tyr342", "uniprot_canonical_ac": "Q9BZW8-1" } ], "record_id": "pubmed.15713798", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutational analysis of the human 2B4 (CD244)/CD48 interaction: Lys68 and Glu70 in the V domain of 2B4 are critical for CD48 binding and functional activation of NK cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2005", "authors": "Mathew SO, Kumaresan PR, Lee JK, Huynh VT, Mathew PA", "reference": { "type": "PubMed", "id": "16002700", "url": "https://pubmed.ncbi.nlm.nih.gov/16002700" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 68, "end_pos": 68, "sequence_org": "K", "sequence_mut": "A", "comment": "Disrupts interaction with CD48; when associated with A-70.", "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" }, { "database": "PubMed", "id": "16002700", "url": "https://pubmed.ncbi.nlm.nih.gov/16002700" } ], "uniprot_canonical_ac": "Q9BZW8-1" }, { "start_pos": 70, "end_pos": 70, "sequence_org": "E", "sequence_mut": "A", "comment": "Disrupts interaction with CD48; when associated with A-68.", "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" }, { "database": "PubMed", "id": "16002700", "url": "https://pubmed.ncbi.nlm.nih.gov/16002700" } ], "uniprot_canonical_ac": "Q9BZW8-1" } ], "record_id": "pubmed.16002700", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The adaptor protein 3BP2 binds human CD244 and links this receptor to Vav signaling, ERK activation, and NK cell killing.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2005-10-01", "authors": "Saborit-Villarroya Ifig\u00e8nia, Del Valle Juana M, Romero Xavier, Esplugues Enric, Lauzurica Pilar, Engel Pablo, Mart\u00edn Margarita", "reference": { "type": "PubMed", "id": "16177062", "url": "https://pubmed.ncbi.nlm.nih.gov/16177062" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 342, "end_pos": 342, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by FYN", "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" }, { "database": "IntAct", "id": "Q9BZW8", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9BZW8*" }, { "database": "iPTMnet", "id": "Q9BZW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BZW8" }, { "database": "PubMed", "id": "16177062", "url": "https://pubmed.ncbi.nlm.nih.gov/16177062" }, { "database": "PubMed", "id": "15713798", "url": "https://pubmed.ncbi.nlm.nih.gov/15713798" }, { "database": "PubMed", "id": "12458214", "url": "https://pubmed.ncbi.nlm.nih.gov/12458214" } ], "site_lbl": "Tyr342", "uniprot_canonical_ac": "Q9BZW8-1" } ], "record_id": "pubmed.16177062", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Functional role of human NK cell receptor 2B4 (CD244) isoforms.", "journal": "Eur. J. Immunol.", "date": "2009", "authors": "Mathew Stephen O, Rao Krithi K, Kim Jong R, Bambard Nowland D, Mathew Porunelloor A", "reference": { "type": "PubMed", "id": "19499526", "url": "https://pubmed.ncbi.nlm.nih.gov/19499526" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19499526", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The association of MHC class I proteins with the 2B4 receptor inhibits self-killing of human NK cells.", "journal": "J. Immunol.", "date": "2010", "authors": "Betser-Cohen Gili, Mizrahi Saar, Elboim Moran, Alsheich-Bartok Osnat, Mandelboim Ofer", "reference": { "type": "PubMed", "id": "20164429", "url": "https://pubmed.ncbi.nlm.nih.gov/20164429" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20164429", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Glycosylation affects ligand binding and function of the activating natural killer cell receptor 2B4 (CD244) protein.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Margraf-Schonfeld S, Bohm C, Watzl C", "reference": { "type": "PubMed", "id": "21606496", "url": "https://pubmed.ncbi.nlm.nih.gov/21606496" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "evidence": [ { "id": "Q9BZW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8#ptm_processing" }, { "id": "21606496", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/21606496" } ], "filter_code": "001000000000000000000.00010000000000.00.01000", "uniprot_canonical_ac": "Q9BZW8-1" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 77, "start_aa": "Asn", "end_pos": 77, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn77", "evidence": [ { "id": "Q9BZW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8#ptm_processing" }, { "id": "21606496", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/21606496" } ], "filter_code": "001000000000000000000.00010000000000.00.01001", "uniprot_canonical_ac": "Q9BZW8-1" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "Q9BZW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8#ptm_processing" }, { "id": "21606496", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/21606496" } ], "filter_code": "001000000000000000000.00010000000000.00.01001", "uniprot_canonical_ac": "Q9BZW8-1" } ], "record_id": "pubmed.21606496", "abstract": "", "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_sites", "count": 3 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 3 }, { "field": "exact_n_linked_sites", "count": 3 }, { "field": "fuzzy_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", "filter_code", "uniprot_canonical_ac" ] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_sites", "count": 3 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 3 }, { "field": "exact_n_linked_sites", "count": 3 }, { "field": "fuzzy_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", "filter_code", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Fine specificity and molecular competition in SLAM family receptor signalling.", "journal": "PLoS ONE", "date": "2014", "authors": "Wilson TJ, Garner LI, Metcalfe C, King E, Margraf S, Brown MH", "reference": { "type": "PubMed", "id": "24642916", "url": "https://pubmed.ncbi.nlm.nih.gov/24642916" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14796-1", "protein_name": "SH2 domain-containing protein 1B", "gene_name": "SH2D1B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 127, "end_pos": 127, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O14796", "url": "https://www.uniprot.org/uniprotkb/O14796" }, { "database": "PubMed", "id": "24687958", "url": "https://pubmed.ncbi.nlm.nih.gov/24687958" }, { "database": "iPTMnet", "id": "O14796", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14796" }, { "database": "PubMed", "id": "24642916", "url": "https://pubmed.ncbi.nlm.nih.gov/24642916" } ], "site_lbl": "Tyr127", "uniprot_canonical_ac": "O14796-1" } ], "record_id": "pubmed.24642916", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A polymorphism in a phosphotyrosine signalling motif of CD229 (Ly9, SLAMF3) alters SH2 domain binding and T-cell activation.", "journal": "Immunology", "date": "2015", "authors": "Margraf S, Garner LI, Wilson TJ, Brown MH", "reference": { "type": "PubMed", "id": "26221972", "url": "https://pubmed.ncbi.nlm.nih.gov/26221972" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HBG7-1", "protein_name": "T-lymphocyte surface antigen Ly-9", "gene_name": "LY9", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 271, "end_pos": 271, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" }, { "database": "PubMed", "id": "15713798", "url": "https://pubmed.ncbi.nlm.nih.gov/15713798" }, { "database": "PubMed", "id": "12458214", "url": "https://pubmed.ncbi.nlm.nih.gov/12458214" }, { "database": "PubMed", "id": "26221972", "url": "https://pubmed.ncbi.nlm.nih.gov/26221972" }, { "database": "iPTMnet", "id": "Q9BZW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BZW8" } ], "site_lbl": "Tyr271", "uniprot_canonical_ac": "Q9BZW8-1" }, { "start_pos": 297, "end_pos": 297, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by FYN", "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" }, { "database": "iPTMnet", "id": "Q9BZW8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BZW8" }, { "database": "PubMed", "id": "15713798", "url": "https://pubmed.ncbi.nlm.nih.gov/15713798" }, { "database": "PubMed", "id": "26221972", "url": "https://pubmed.ncbi.nlm.nih.gov/26221972" }, { "database": "PubMed", "id": "12458214", "url": "https://pubmed.ncbi.nlm.nih.gov/12458214" } ], "site_lbl": "Tyr297", "uniprot_canonical_ac": "Q9BZW8-1" }, { "start_pos": 603, "end_pos": 603, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBG7", "url": "https://www.uniprot.org/uniprotkb/Q9HBG7" }, { "database": "PubMed", "id": "26221972", "url": "https://pubmed.ncbi.nlm.nih.gov/26221972" }, { "database": "PubMed", "id": "12458214", "url": "https://pubmed.ncbi.nlm.nih.gov/12458214" }, { "database": "iPTMnet", "id": "Q9HBG7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBG7" } ], "site_lbl": "Tyr603", "uniprot_canonical_ac": "Q9HBG7-1" } ], "record_id": "pubmed.26221972", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Increased TOX expression concurrent with PD-1, Tim-3, and CD244 in T cells from patients with non-Hodgkin lymphoma.", "journal": "Asia-Pacific journal of clinical oncology", "date": "2022", "authors": "Huang S, Liang C, Zhao Y, Deng T, Tan J, Lu Y, Liu S, Li Y, Chen S", "reference": { "type": "PubMed", "id": "33608984", "url": "https://pubmed.ncbi.nlm.nih.gov/33608984" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33608984", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "NKG2D Engagement Alone Is Sufficient to Activate Cytokine-Induced Killer Cells While 2B4 Only Provides Limited Coactivation.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Wu X, Sharma A, Oldenburg J, Weiher H, Essler M, Skowasch D, Schmidt-Wolf IGH", "reference": { "type": "PubMed", "id": "34691037", "url": "https://pubmed.ncbi.nlm.nih.gov/34691037" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34691037", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "2B4 inhibits the apoptosis of natural killer cells through phosphorylated extracellular signal-related kinase/B-cell lymphoma 2 signal pathway.", "journal": "Cytotherapy", "date": "2023-10", "authors": "Mou Junli, Xie Leling, Xu Yingxi, Zhou Tong, Liu Yu, Huang Qianqian, Tang Kejing, Tian Zheng, Xing Haiyan, Qiu Shaowei, Rao Qing, Wang Min, Wang Jianxiang", "reference": { "type": "PubMed", "id": "37516949", "url": "https://pubmed.ncbi.nlm.nih.gov/37516949" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37516949", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Evaluation of mRNA Expression of CD244 and Its Adapter Molecules in CD8+ T Cells in Acute Leukemia.", "journal": "Iranian biomedical journal", "date": "2023-07-01", "authors": "Mohammadi Maryam, Asgarian-Omran Hossein, Najafi Ahmad, Valadan Reza, Karami Hossein, Naderisoraki Mohammad, Zaboli Ehsan, Eslami Mohammad, Tehrani Mohsen", "reference": { "type": "PubMed", "id": "37634081", "url": "https://pubmed.ncbi.nlm.nih.gov/37634081" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37634081", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of a novel signal transduction surface molecule on human cytotoxic lymphocytes.", "journal": "The Journal of experimental medicine", "date": "1993", "authors": "Valiante NM, Trinchieri G", "reference": { "type": "PubMed", "id": "8376943", "url": "https://pubmed.ncbi.nlm.nih.gov/8376943" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZW8-1", "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZW8", "url": "https://www.uniprot.org/uniprotkb/Q9BZW8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8376943", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development.", "journal": "Hum. Mol. Genet.", "date": "1999", "authors": "Mariani M, Baldessari D, Francisconi S, Viggiano L, Rocchi M, Zappavigna V, Malgaretti N, Consalez GG", "reference": { "type": "PubMed", "id": "10556287", "url": "https://pubmed.ncbi.nlm.nih.gov/10556287" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y586-1", "protein_name": "Protein mab-21-like 2", "gene_name": "MAB21L2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O70299-1", "protein_name": "Putative nucleotidyltransferase MAB21L1", "gene_name": "Mab21l1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q8BPP1-1", "protein_name": "Protein mab-21-like 2", "gene_name": "Mab21l2", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y586", "url": "https://www.uniprot.org/uniprotkb/Q9Y586" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10556287", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.", "journal": "American journal of human genetics", "date": "2014", "authors": "Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A, Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR", "reference": { "type": "PubMed", "id": "24906020", "url": "https://pubmed.ncbi.nlm.nih.gov/24906020" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y586-1", "protein_name": "Protein mab-21-like 2", "gene_name": "MAB21L2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8BPP1-1", "protein_name": "Protein mab-21-like 2", "gene_name": "Mab21l2", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y586", "url": "https://www.uniprot.org/uniprotkb/Q9Y586" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24906020", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.", "journal": "European journal of medical genetics", "date": "2015", "authors": "Horn D, Prescott T, Houge G, Braekke K, Rosendahl K, Nishimura G, FitzPatrick DR, Spranger J", "reference": { "type": "PubMed", "id": "26116559", "url": "https://pubmed.ncbi.nlm.nih.gov/26116559" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y586-1", "protein_name": "Protein mab-21-like 2", "gene_name": "MAB21L2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y586", "url": "https://www.uniprot.org/uniprotkb/Q9Y586" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26116559", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The Male Abnormal Gene Family 21 (Mab21) Members Regulate Eye Development.", "journal": "Current molecular medicine", "date": "2016", "authors": "Huang ZX, Xiang JW, Zhou L, Nie Q, Wang L, Chen ZG, Hu XH, Xiao Y, Qing WJ, Liu YF, Sun Q, Tang XC, Liu FY, Luo ZW, Liu WB, Li DW", "reference": { "type": "PubMed", "id": "27558071", "url": "https://pubmed.ncbi.nlm.nih.gov/27558071" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y586-1", "protein_name": "Protein mab-21-like 2", "gene_name": "MAB21L2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y586", "url": "https://www.uniprot.org/uniprotkb/Q9Y586" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27558071", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway.", "journal": "Nature structural & molecular biology", "date": "2013", "authors": "Nozawa RS, Nagao K, Igami KT, Shibata S, Shirai N, Nozaki N, Sado T, Kimura H, Obuse C", "reference": { "type": "PubMed", "id": "23542155", "url": "https://pubmed.ncbi.nlm.nih.gov/23542155" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5T3J3-1", "protein_name": "Ligand-dependent nuclear receptor-interacting factor 1", "gene_name": "LRIF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NHR9-1", "protein_name": "Structural maintenance of chromosomes flexible hinge domain-containing protein 1", "gene_name": "SMCHD1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13185-1", "protein_name": "Chromobox protein homolog 3", "gene_name": "CBX3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P83916-1", "protein_name": "Chromobox protein homolog 1", "gene_name": "CBX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P45973-1", "protein_name": "Chromobox protein homolog 5", "gene_name": "CBX5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5T3J3", "url": "https://www.uniprot.org/uniprotkb/Q5T3J3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 582, "end_pos": 584, "sequence_org": "VCL", "sequence_mut": "DCE", "comment": "Abolishes interaction with HP1 (CBX1/HP1-beta, CBX3/HP1-gamma and CBX5/HP1-alpha).", "evidence": [ { "database": "UniProtKB", "id": "Q5T3J3", "url": "https://www.uniprot.org/uniprotkb/Q5T3J3" }, { "database": "PubMed", "id": "23542155", "url": "https://pubmed.ncbi.nlm.nih.gov/23542155" } ], "uniprot_canonical_ac": "Q5T3J3-1" } ], "record_id": "pubmed.23542155", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "LRIF1 interacts with HP1alpha to coordinate accurate chromosome segregation during mitosis.", "journal": "Journal of molecular cell biology", "date": "2018", "authors": "Akram S, Yang F, Li J, Adams G, Liu Y, Zhuang X, Chu L, Liu X, Emmett N, Thompson W, Mullen M, Muthusamy S, Wang W, Mo F, Liu X", "reference": { "type": "PubMed", "id": "30016453", "url": "https://pubmed.ncbi.nlm.nih.gov/30016453" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5T3J3-1", "protein_name": "Ligand-dependent nuclear receptor-interacting factor 1", "gene_name": "LRIF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5T3J3", "url": "https://www.uniprot.org/uniprotkb/Q5T3J3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30016453", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy.", "journal": "Neurology", "date": "2020-06-09", "authors": "Hamanaka Kohei, \u0160ikrov\u00e1 Darina, Mitsuhashi Satomi, Masuda Hiroki, Sekiguchi Yukari, Sugiyama Atsuhiko, Shibuya Kazumoto, Lemmers Richard J L F, Goossens Remko, Ogawa Megumu, Nagao Koji, Obuse Chikashi, Noguchi Satoru, Hayashi Yukiko K, Kuwabara Satoshi, Balog Judit, Nishino Ichizo, van der Maarel Silv\u00e8re M", "reference": { "type": "PubMed", "id": "32467133", "url": "https://pubmed.ncbi.nlm.nih.gov/32467133" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5T3J3-1", "protein_name": "Ligand-dependent nuclear receptor-interacting factor 1", "gene_name": "LRIF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5T3J3", "url": "https://www.uniprot.org/uniprotkb/Q5T3J3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32467133", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.", "journal": "Communications biology", "date": "2023-06-28", "authors": "\u0160ikrov\u00e1 Darina, Testa Alessandra M, Willemsen Iris, van den Heuvel Anita, Tapscott Stephen J, Daxinger Lucia, Balog Judit, van der Maarel Silv\u00e8re M", "reference": { "type": "PubMed", "id": "37380887", "url": "https://pubmed.ncbi.nlm.nih.gov/37380887" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5T3J3-1", "protein_name": "Ligand-dependent nuclear receptor-interacting factor 1", "gene_name": "LRIF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NHR9-1", "protein_name": "Structural maintenance of chromosomes flexible hinge domain-containing protein 1", "gene_name": "SMCHD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5T3J3", "url": "https://www.uniprot.org/uniprotkb/Q5T3J3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37380887", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.", "journal": "American journal of human genetics", "date": "1999", "authors": "Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano CA", "reference": { "type": "PubMed", "id": "10053006", "url": "https://pubmed.ncbi.nlm.nih.gov/10053006" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs121913105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121913105" }, { "id": "rs121913105", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121913105#frequency_tab" }, { "id": "rs121913105", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121913105" }, { "id": "10053006", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10053006" }, { "id": "10671061", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10671061" }, { "id": "18076102", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18076102" }, { "id": "9207791", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9207791" }, { "id": "rs121913105", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121913105" }, { "id": "rs1448029825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448029825" }, { "id": "rs1448029825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448029825" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "subjects_tested": "1906", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "K", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1806163", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K650", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00101.11.000.100", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.10053006", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "High-affinity binding of basic fibroblast growth factor and platelet-derived growth factor-AA to the core protein of the NG2 proteoglycan.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Goretzki L, Burg M A, Grako K A, Stallcup W B", "reference": { "type": "PubMed", "id": "10358027", "url": "https://pubmed.ncbi.nlm.nih.gov/10358027" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q00657-1", "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "Cspg4", "tax_name": "Rat" }, { "uniprot_canonical_ac": "P04085-1", "protein_name": "Platelet-derived growth factor subunit A", "gene_name": "PDGFA", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10358027", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2001", "authors": "Ibrahimi O A, Eliseenkova A V, Plotnikov A N, Yu K, Ornitz D M, Mohammadi M", "reference": { "type": "PubMed", "id": "11390973", "url": "https://pubmed.ncbi.nlm.nih.gov/11390973" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21802-1", "protein_name": "Fibroblast growth factor receptor 2", "gene_name": "FGFR2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P21802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21802" }, { "id": "rs79184941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79184941" }, { "id": "rs79184941", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79184941" }, { "id": "rs79184941", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs79184941#frequency_tab" }, { "id": "rs79184941", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs79184941" }, { "id": "11390973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11390973" }, { "id": "12124745", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12124745" }, { "id": "16440883", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16440883" }, { "id": "17525745", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17525745" }, { "id": "8651276", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8651276" }, { "id": "9719378", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9719378" }, { "id": "rs79184941", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs79184941" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 252, "end_pos": 252, "subjects_tested": "1704", "subjects_positive": "140", "frequency": "8.2", "sequence_org": "S", "sequence_mut": "W", "comment": "Somatic mutation passed 3 filters: patient freq. (8.2%); patient count (140/1704); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "10", "chr_pos": "121520163", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S252", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus." }, "synonyms": [ { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1380", "name": "tumor of Endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumor of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumour of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "cancer of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, familial, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial carcinoma, somatic", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrium cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrium neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "MIM:608089", "resource": "MIM", "url": "https://www.omim.org/entry/608089", "name": "Endometrial cancer", "description": "Endometrial cancer" } ], "unlinked_id_list": [ "DOID:5166" ], "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0050331", "recommended_name": { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." }, "synonyms": [ { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "LEVY-HOLLISTER SYNDROME", "description": "" }, { "id": "DOID:0050331", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050331", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" }, { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ] }, { "disease_id": "DOID:0081370", "recommended_name": { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "LADD syndrome", "description": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." }, "synonyms": [ { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "lacrimoauriculodentodigital syndrome", "description": "" }, { "id": "DOID:0081370", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081370", "name": "Lacrimo-auriculo-dento-digital (LADD) syndrome", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD syndrome 1", "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "LADD1", "description": "" }, { "id": "MONDO:0100302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100302", "name": "lacrimoauriculodentodigital syndrome 1", "description": "" }, { "id": "MIM:149730", "resource": "MIM", "url": "https://www.omim.org/entry/149730", "name": "Lacrimo-auriculo-dento-digital syndrome 1", "description": "Lacrimo-auriculo-dento-digital syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "149730", "database": "MIM", "url": "https://www.omim.org/entry/149730" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000000100000.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "P21802-1" }, { "evidence": [ { "id": "P21802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P21802" }, { "id": "rs77543610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs77543610" }, { "id": "rs77543610", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs77543610#frequency_tab" }, { "id": "11390973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11390973" }, { "id": "12124745", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12124745" }, { "id": "16969861", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16969861" }, { "id": "8651276", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8651276" }, { "id": "rs77543610", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs77543610" } ], "glycoeffect": [], "start_pos": 253, "end_pos": 253, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 2 filters: num. of cancers (4); protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "10", "chr_pos": "121520160", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P253", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "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: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:12960", "recommended_name": { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly." }, "synonyms": [ { "id": "DOID:12960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12960", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "ACS1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "Apert syndrome", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalosyndactyly type I", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "type I Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "acrocephalo-syndactyly type 1", "description": "" }, { "id": "MONDO:0007041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007041", "name": "syndactylic oxycephaly", "description": "" }, { "id": "MIM:101200", "resource": "MIM", "url": "https://www.omim.org/entry/101200", "name": "Apert syndrome", "description": "Apert syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ] }, { "disease_id": "DOID:0081290", "recommended_name": { "id": "DOID:0081290", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome." }, "synonyms": [ { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis", "description": "" }, { "id": "MONDO:0020667", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020667", "name": "ABS2", "description": "" }, { "id": "MIM:207410", "resource": "MIM", "url": "https://www.omim.org/entry/207410", "name": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis", "description": "Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis" } ], "unlinked_id_list": [], "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" }, { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ] }, { "disease_id": "DOID:0050660", "recommended_name": { "id": "DOID:0050660", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "BSTVS", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "Beare Stevenson syndrome", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata - acanthosis nigricans - craniosynostosis", "description": "" }, { "id": "MONDO:0007412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007412", "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome", "description": "" }, { "id": "MIM:123790", "resource": "MIM", "url": "https://www.omim.org/entry/123790", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "Beare-Stevenson cutis gyrata syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" }, { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ] }, { "disease_id": "DOID:0060992", "recommended_name": { "id": "DOID:0060992", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26." }, "synonyms": [ { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" }, { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P21802-1" } ], "record_id": "pubmed.11390973", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Induction of chondrogenesis in neural crest cells by mutant fibroblast growth factor receptors.", "journal": "Developmental dynamics : an official publication of the American Association of Anatomists", "date": "2002", "authors": "Petiot A, Ferretti P, Copp AJ, Chan CT", "reference": { "type": "PubMed", "id": "12112473", "url": "https://pubmed.ncbi.nlm.nih.gov/12112473" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12112473", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders.", "journal": "European journal of human genetics : EJHG", "date": "2002", "authors": "van Rhijn BW, van Tilborg AA, Lurkin I, Bonaventure J, de Vries A, Thiery JP, van der Kwast TH, Zwarthoff EC, Radvanyi F", "reference": { "type": "PubMed", "id": "12461689", "url": "https://pubmed.ncbi.nlm.nih.gov/12461689" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12461689", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Reverse transcription with nested polymerase chain reaction shows expression of basic fibroblast growth factor transcripts in human granulosa and cumulus cells from in vitro fertilisation patients.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1992", "authors": "Watson R, Anthony F, Pickett M, Lambden P, Masson G M, Thomas E J", "reference": { "type": "PubMed", "id": "1417798", "url": "https://pubmed.ncbi.nlm.nih.gov/1417798" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1417798", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.", "journal": "Human molecular genetics", "date": "2004", "authors": "Ibrahimi OA, Zhang F, Eliseenkova AV, Linhardt RJ, Mohammadi M", "reference": { "type": "PubMed", "id": "14613973", "url": "https://pubmed.ncbi.nlm.nih.gov/14613973" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909627" }, { "id": "rs121909627", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909627" }, { "id": "rs121909627", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909627#frequency_tab" }, { "id": "rs121909627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909627" }, { "id": "10861678", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10861678" }, { "id": "14613973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14613973" }, { "id": "7874169", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7874169" } ], "glycoeffect": [], "start_pos": 252, "end_pos": 252, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38424690", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P252", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0111532", "recommended_name": { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23." }, "synonyms": [ { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "OGD", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "FGFR1-related osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "OGD", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "MIM:166250", "resource": "MIM", "url": "https://www.omim.org/entry/166250", "name": "Osteoglophonic dysplasia", "description": "Osteoglophonic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "166250", "database": "MIM", "url": "https://www.omim.org/entry/166250" }, { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" }, { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs4647924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4647924" }, { "id": "rs4647924", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs4647924#frequency_tab" }, { "id": "rs4647924", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs4647924" }, { "id": "10094188", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10094188" }, { "id": "11424131", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11424131" }, { "id": "11746040", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11746040" }, { "id": "14613973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14613973" }, { "id": "15241680", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15241680" }, { "id": "19215249", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19215249" }, { "id": "25271085", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/25271085" }, { "id": "8723106", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8723106" }, { "id": "8841188", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8841188" }, { "id": "9042914", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9042914" }, { "id": "9107244", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9107244" }, { "id": "9279753", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9279753" }, { "id": "9279764", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9279764" }, { "id": "9300656", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9300656" }, { "id": "9525367", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9525367" }, { "id": "9580776", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9580776" }, { "id": "9585583", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9585583" }, { "id": "9600744", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9600744" }, { "id": "9843059", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9843059" }, { "id": "9950359", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9950359" }, { "id": "rs4647924", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs4647924" } ], "glycoeffect": [], "start_pos": 250, "end_pos": 250, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1801844", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "P250", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:2339", "recommended_name": { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." }, "synonyms": [ { "id": "DOID:2339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2339", "name": "Craniofacial Dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon syndrome", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Cfd1", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "Crouzon disease", "description": "" }, { "id": "MONDO:0007405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007405", "name": "craniofacial dysostosis type 1", "description": "" }, { "id": "MIM:123500", "resource": "MIM", "url": "https://www.omim.org/entry/123500", "name": "Crouzon syndrome", "description": "Crouzon syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" }, { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:14768", "recommended_name": { "id": "DOID:14768", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "ACS3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "SCS", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre Chotzen Syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "Saethre-Chotzen syndrome with or without eyelid anomalies", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalosyndactyly type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "type III Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "acrocephalo-syndactyly, type 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly", "description": "" }, { "id": "MONDO:0007042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007042", "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MONDO:0008391", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008391", "name": "Robinow-Sorauf syndrome", "description": "" }, { "id": "MIM:101400", "resource": "MIM", "url": "https://www.omim.org/entry/101400", "name": "Saethre-Chotzen syndrome", "description": "Saethre-Chotzen syndrome" }, { "id": "MIM:180750", "resource": "MIM", "url": "https://www.omim.org/entry/180750", "name": "Robinow-Sorauf syndrome", "description": "Robinow-Sorauf syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.14613973", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 11 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of the basic fibroblast growth factor binding sequence in fibroblast heparan sulfate.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Turnbull JE, Fernig DG, Ke Y, Wilkinson MC, Gallagher JT", "reference": { "type": "PubMed", "id": "1587820", "url": "https://pubmed.ncbi.nlm.nih.gov/1587820" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1587820", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Constitutive activating mutation of the FGFR3b in oral squamous cell carcinomas.", "journal": "International journal of cancer", "date": "2005", "authors": "Zhang Y, Hiraishi Y, Wang H, Sumi KS, Hayashido Y, Toratani S, Kan M, Sato JD, Okamoto T", "reference": { "type": "PubMed", "id": "15880580", "url": "https://pubmed.ncbi.nlm.nih.gov/15880580" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15880580", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Rand V, Huang J, Stockwell T, Ferriera S, Buzko O, Levy S, Busam D, Li K, Edwards JB, Eberhart C, Murphy KM, Tsiamouri A, Beeson K, Simpson AJ, Venter JC, Riggins GJ, Strausberg RL", "reference": { "type": "PubMed", "id": "16186508", "url": "https://pubmed.ncbi.nlm.nih.gov/16186508" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16186508", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of the fibroblast growth factor (FGF)-interacting domain in a secreted FGF-binding protein by phage display.", "journal": "J. Biol. Chem.", "date": "2006", "authors": "Xie B, Tassi E, Swift MR, McDonnell K, Bowden ET, Wang S, Ueda Y, Tomita Y, Riegel AT, Wellstein A", "reference": { "type": "PubMed", "id": "16257968", "url": "https://pubmed.ncbi.nlm.nih.gov/16257968" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9MZ06-1", "protein_name": "Fibroblast growth factor-binding protein 1", "gene_name": "FGFBP1", "tax_name": "Bovine" }, { "uniprot_canonical_ac": "Q14512-1", "protein_name": "Fibroblast growth factor-binding protein 1", "gene_name": "FGFBP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 214, "end_pos": 214, "sequence_org": "C", "sequence_mut": "A", "comment": "Strongly reduces interaction with FGF2.", "evidence": [ { "database": "UniProtKB", "id": "Q14512", "url": "https://www.uniprot.org/uniprotkb/Q14512" }, { "database": "PubMed", "id": "16257968", "url": "https://pubmed.ncbi.nlm.nih.gov/16257968" } ], "uniprot_canonical_ac": "Q14512-1" } ], "record_id": "pubmed.16257968", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Molecular characterization of early-stage bladder carcinomas by expression profiles, FGFR3 mutation status, and loss of 9q.", "journal": "Oncogene", "date": "2006", "authors": "Lindgren D, Liedberg F, Andersson A, Chebil G, Gudjonsson S, Borg A, Mansson W, Fioretos T, Hoglund M", "reference": { "type": "PubMed", "id": "16532037", "url": "https://pubmed.ncbi.nlm.nih.gov/16532037" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16532037", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Three-dimensional structure of human basic fibroblast growth factor.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1991", "authors": "Eriksson A E, Cousens L S, Weaver L H, Matthews B W", "reference": { "type": "PubMed", "id": "1707542", "url": "https://pubmed.ncbi.nlm.nih.gov/1707542" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1707542", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of high-molecular-mass forms of basic fibroblast growth factor produced by hepatocellular carcinoma cells: possible involvement of basic fibroblast growth factor in hepatocarcinogenesis.", "journal": "Japanese journal of cancer research : Gann", "date": "1991-11", "authors": "Shimoyama Y, Gotoh M, Ino Y, Sakamoto M, Kato K, Hirohashi S", "reference": { "type": "PubMed", "id": "1721615", "url": "https://pubmed.ncbi.nlm.nih.gov/1721615" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1721615", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Crystal structure of basic fibroblast growth factor at 1.6-A resolution.", "journal": "J. Biochem.", "date": "1991", "authors": "Ago H, Kitagawa Y, Fujishima A, Matsuura Y, Katsube Y", "reference": { "type": "PubMed", "id": "1769963", "url": "https://pubmed.ncbi.nlm.nih.gov/1769963" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1769963", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Basic fibroblast growth factor gene expression.", "journal": "Ann. N. Y. Acad. Sci.", "date": "1991", "authors": "Florkiewicz R Z, Shibata F, Barankiewicz T, Baird A, Gonzalez A M, Florkiewicz E, Shah N", "reference": { "type": "PubMed", "id": "1785797", "url": "https://pubmed.ncbi.nlm.nih.gov/1785797" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1785797", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Genetic alterations in the tyrosine kinase transcriptome of human cancer cell lines.", "journal": "Cancer research", "date": "2007", "authors": "Ruhe JE, Streit S, Hart S, Wong CH, Specht K, Knyazev P, Knyazeva T, Tay LS, Loo HL, Foo P, Wong W, Pok S, Lim SJ, Ong H, Luo M, Ho HK, Peng K, Lee TC, Bezler M, Mann C, Gaertner S, Hoefler H, Iacobelli S, Peter S, Tay A, Brenner S, Venkatesh B, Ullrich A", "reference": { "type": "PubMed", "id": "18056464", "url": "https://pubmed.ncbi.nlm.nih.gov/18056464" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22455-1", "protein_name": "Fibroblast growth factor receptor 4", "gene_name": "FGFR4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18056464", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Three-dimensional structure of human basic fibroblast growth factor, a structural homolog of interleukin 1 beta.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1991", "authors": "Zhang J D, Cousens L S, Barr P J, Sprang S R", "reference": { "type": "PubMed", "id": "1849658", "url": "https://pubmed.ncbi.nlm.nih.gov/1849658" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1849658", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Effect of FGF-binding protein 3 on vascular permeability.", "journal": "J. Biol. Chem.", "date": "2008", "authors": "Zhang W, Chen Y, Swift MR, Tassi E, Stylianou DC, Gibby KA, Riegel AT, Wellstein A", "reference": { "type": "PubMed", "id": "18669637", "url": "https://pubmed.ncbi.nlm.nih.gov/18669637" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TAT2-1", "protein_name": "Fibroblast growth factor-binding protein 3", "gene_name": "FGFBP3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18669637", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.", "journal": "Nature genetics", "date": "2009", "authors": "Goriely A, Hansen RM, Taylor IB, Olesen IA, Jacobsen GK, McGowan SJ, Pfeifer SP, McVean GA, Rajpert-De Meyts E, Wilkie AO", "reference": { "type": "PubMed", "id": "19855393", "url": "https://pubmed.ncbi.nlm.nih.gov/19855393" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43320-1", "protein_name": "Fibroblast growth factor 16", "gene_name": "FGF16", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22607-1", "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O76093-1", "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P22607", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22607" }, { "id": "rs78311289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78311289" }, { "id": "rs78311289", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78311289" }, { "id": "rs78311289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs78311289" }, { "id": "12624096", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12624096" }, { "id": "16752380", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16752380" }, { "id": "19855393", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/19855393" }, { "id": "7773297", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7773297" }, { "id": "9207791", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9207791" }, { "id": "9677066", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9677066" }, { "id": "rs78311289", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78311289" } ], "glycoeffect": [], "start_pos": 650, "end_pos": 650, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, fibroblast growth factor receptor).", "chr_id": "4", "chr_pos": "1806162", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K650", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4480", "recommended_name": { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." }, "synonyms": [ { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Achondroplastic physique", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "Chondrodystrophia", "description": "" }, { "id": "DOID:4480", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4480", "name": "osteosclerosis congenita", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "ACH", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplasia", "description": "" }, { "id": "MONDO:0007037", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007037", "name": "achondroplastic dwarfism", "description": "" }, { "id": "MIM:100800", "resource": "MIM", "url": "https://www.omim.org/entry/100800", "name": "Achondroplasia", "description": "Achondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ] }, { "disease_id": "DOID:0111160", "recommended_name": { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111160", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111160", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHL syndrome", "description": "" }, { "id": "MONDO:0012504", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012504", "name": "CATSHLS", "description": "" }, { "id": "MIM:610474", "resource": "MIM", "url": "https://www.omim.org/entry/610474", "name": "Camptodactyly, tall stature, and hearing loss syndrome", "description": "Camptodactyly, tall stature, and hearing loss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "610474", "database": "MIM", "url": "https://www.omim.org/entry/610474" }, { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0111161", "recommended_name": { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "CAN", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "DOID:0111161", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111161", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "CAN", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Chronic kidney allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon-dermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzonodermoskeletal syndrome", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "chronic allograft nephropathy", "description": "" }, { "id": "MONDO:0012833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012833", "name": "Crouzon syndrome with acanthosis nigricans", "description": "" }, { "id": "MIM:612247", "resource": "MIM", "url": "https://www.omim.org/entry/612247", "name": "Crouzon syndrome with acanthosis nigricans", "description": "Crouzon syndrome with acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "612247", "database": "MIM", "url": "https://www.omim.org/entry/612247" }, { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ] }, { "disease_id": "DOID:0111162", "recommended_name": { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." }, "synonyms": [ { "id": "DOID:0111162", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111162", "name": "nonepidermolytic keratinocytic nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Epidermal Nevus", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "epidermal nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or woolly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus sebaceous or wooly hair nevus, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "nevus, epidermal, somatic", "description": "" }, { "id": "MONDO:0008093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008093", "name": "Nevus, woolly hair", "description": "" }, { "id": "MIM:162900", "resource": "MIM", "url": "https://www.omim.org/entry/162900", "name": "Keratinocytic non-epidermolytic nevus", "description": "Keratinocytic non-epidermolytic nevus" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ] }, { "disease_id": "DOID:5557", "recommended_name": { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "testicular germ cell cancer", "description": "A testicular cancer that has_material_basis_in germ cells." }, "synonyms": [ { "id": "DOID:5557", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5557", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "TGCT", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell neoplasm of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumor of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumors, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "germ cell tumour of the testis", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "male germ cell tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "spermatocytic seminoma, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasm", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell neoplasms", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testicular tumor, somatic", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumor", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "testis germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "Male germ cell tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "endodermal sinus tumour", "description": "" }, { "id": "MONDO:0010108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010108", "name": "nonseminomatous germ cell tumours", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumour", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "TGCT1", "description": "" }, { "id": "MONDO:0010274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010274", "name": "testicular germ cell tumor 1", "description": "" }, { "id": "MIM:273300", "resource": "MIM", "url": "https://www.omim.org/entry/273300", "name": "Testicular germ cell tumor", "description": "Testicular germ cell tumor" } ], "unlinked_id_list": [], "evidence": [ { "id": "5557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5557" } ] }, { "disease_id": "DOID:0080041", "recommended_name": { "id": "DOID:0080041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "hypochondroplasia", "description": "" }, { "id": "MONDO:0007793", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007793", "name": "HCH", "description": "" }, { "id": "MIM:146000", "resource": "MIM", "url": "https://www.omim.org/entry/146000", "name": "Hypochondroplasia", "description": "Hypochondroplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "146000", "database": "MIM", "url": "https://www.omim.org/entry/146000" }, { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ] }, { "disease_id": "DOID:6498", "recommended_name": { "id": "DOID:6498", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:6498", "name": "seborrheic keratosis", "description": "" }, "synonyms": [ { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "seborrheic keratosis", "description": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "basal cell papilloma", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis Seborrheica", "description": "" }, { "id": "MONDO:0008420", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008420", "name": "keratosis, seborrheic, somatic", "description": "" }, { "id": "MIM:182000", "resource": "MIM", "url": "https://www.omim.org/entry/182000", "name": "Keratosis, seborrheic", "description": "Keratosis, seborrheic" } ], "unlinked_id_list": [], "evidence": [ { "id": "6498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6498" } ] }, { "disease_id": "DOID:0081371", "recommended_name": { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." }, "synonyms": [ { "id": "DOID:0081371", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081371", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "" }, { "id": "MONDO:0859577", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859577", "name": "lacrimoauriculodentodigital syndrome 2", "description": "" }, { "id": "MIM:620192", "resource": "MIM", "url": "https://www.omim.org/entry/620192", "name": "Lacrimo-auriculo-dento-digital syndrome 2", "description": "Lacrimo-auriculo-dento-digital syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "620192", "database": "MIM", "url": "https://www.omim.org/entry/620192" }, { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ] }, { "disease_id": "DOID:0060703", "recommended_name": { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3." }, "synonyms": [ { "id": "DOID:0060703", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060703", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "FGFR3-related craniosynostosis", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "MNKES", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "Muenke syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis - dysmorphism - brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis brachydactyly", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "craniosynostosis-dysmorphism-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "glass-chapman-hockley syndrome", "description": "" }, { "id": "MONDO:0011274", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011274", "name": "syndrome of coronal craniosynostosis", "description": "" }, { "id": "MIM:602849", "resource": "MIM", "url": "https://www.omim.org/entry/602849", "name": "Muenke syndrome", "description": "Muenke syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "602849", "database": "MIM", "url": "https://www.omim.org/entry/602849" }, { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Multiple Myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "unlinked_id_list": [], "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "unlinked_id_list": [], "evidence": [ { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" }, { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "disease_id": "DOID:13481", "recommended_name": { "id": "DOID:13481", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." }, "synonyms": [ { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type 1", "description": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "TD1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "type 1 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "PLSD San Diego type", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dwarfism 1", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia type I", "description": "" }, { "id": "MONDO:0008546", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008546", "name": "thanatophoric dysplasia, type I", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type 2", "description": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "TD2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "cloverleaf skull-micromelic bone dysplasia syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism-cloverleaf skull syndrome", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type 2", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "type 2 thanatophoric dysplasia", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dwarfism - cloverleaf skull", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia type II", "description": "" }, { "id": "MONDO:0008547", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008547", "name": "thanatophoric dysplasia, type II", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MONDO:0010114", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010114", "name": "thanatophoric dysplasia, Glasgow variant", "description": "" }, { "id": "MIM:187600", "resource": "MIM", "url": "https://www.omim.org/entry/187600", "name": "Thanatophoric dysplasia 1", "description": "Thanatophoric dysplasia 1" }, { "id": "MIM:187601", "resource": "MIM", "url": "https://www.omim.org/entry/187601", "name": "Thanatophoric dysplasia 2", "description": "Thanatophoric dysplasia 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00101.11.000.100", "uniprot_canonical_ac": "P22607-1" } ], "record_id": "pubmed.19855393", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Tec-kinase-mediated phosphorylation of fibroblast growth factor 2 is essential for unconventional secretion.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2010", "authors": "Ebert AD, Laussmann M, Wegehingel S, Kaderali L, Erfle H, Reichert J, Lechner J, Beer HD, Pepperkok R, Nickel W", "reference": { "type": "PubMed", "id": "20230531", "url": "https://pubmed.ncbi.nlm.nih.gov/20230531" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P42680-1", "protein_name": "Tyrosine-protein kinase Tec", "gene_name": "TEC", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 215, "end_pos": 215, "kinase_uniprot_canonical_ac": "P42680-1", "kinase_gene_name": "TEC", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09038", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09038" }, { "database": "PubMed", "id": "20230531", "url": "https://pubmed.ncbi.nlm.nih.gov/20230531" } ], "site_lbl": "Tyr215", "uniprot_canonical_ac": "P09038-4" }, { "start_pos": 215, "end_pos": 215, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by TEC", "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" }, { "database": "iPTMnet", "id": "P09038", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09038" }, { "database": "PubMed", "id": "20230531", "url": "https://pubmed.ncbi.nlm.nih.gov/20230531" } ], "site_lbl": "Tyr215", "uniprot_canonical_ac": "P09038-4" }, { "start_pos": 257, "end_pos": 257, "kinase_uniprot_canonical_ac": "P42680-1", "kinase_gene_name": "TEC", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09038", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09038" }, { "database": "PubMed", "id": "20230531", "url": "https://pubmed.ncbi.nlm.nih.gov/20230531" } ], "site_lbl": "Tyr257", "uniprot_canonical_ac": "P09038-4" } ], "record_id": "pubmed.20230531", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The cytoplasmic domain of TGF\u03b2R3 through its interaction with the scaffolding protein, GIPC, directs epicardial cell behavior.", "journal": "Developmental biology", "date": "2011-10-15", "authors": "S\u00e1nchez Nora S, Hill Cynthia R, Love Joseph D, Soslow Jonathan H, Craig Evisabel, Austin Anita F, Brown Christopher B, Czirok Andras, Camenisch Todd D, Barnett Joey V", "reference": { "type": "PubMed", "id": "21871877", "url": "https://pubmed.ncbi.nlm.nih.gov/21871877" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O88393-1", "protein_name": "Transforming growth factor beta receptor type 3", "gene_name": "Tgfbr3", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "O14908-1", "protein_name": "PDZ domain-containing protein GIPC1", "gene_name": "GIPC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03167-1", "protein_name": "Transforming growth factor beta receptor type 3", "gene_name": "TGFBR3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21871877", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Nuclear import of exogenous FGF1 requires the ER-protein LRRC59 and the importins Kpnalpha1 and Kpnbeta1.", "journal": "Traffic", "date": "2012", "authors": "Zhen Y, Sorensen V, Skjerpen CS, Haugsten EM, Jin Y, Walchli S, Olsnes S, Wiedlocha A", "reference": { "type": "PubMed", "id": "22321063", "url": "https://pubmed.ncbi.nlm.nih.gov/22321063" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86XR8-1", "protein_name": "Centrosomal protein of 57 kDa", "gene_name": "CEP57", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96AG4-1", "protein_name": "Leucine-rich repeat-containing protein 59", "gene_name": "LRRC59", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 24, "end_pos": 27, "sequence_org": "KKPK", "sequence_mut": "AAPA", "comment": "Loss of nuclear import leading to loss of phosphorylation by PKC/PRKCD.", "evidence": [ { "database": "UniProtKB", "id": "P05230", "url": "https://www.uniprot.org/uniprotkb/P05230" }, { "database": "PubMed", "id": "22321063", "url": "https://pubmed.ncbi.nlm.nih.gov/22321063" } ], "uniprot_canonical_ac": "P05230-1" } ], "record_id": "pubmed.22321063", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A dominant-negative FGF1 mutant (the R50E mutant) suppresses tumorigenesis and angiogenesis.", "journal": "PLoS ONE", "date": "2013", "authors": "Mori S, Tran V, Nishikawa K, Kaneda T, Hamada Y, Kawaguchi N, Fujita M, Saegusa J, Takada YK, Matsuura N, Zhao M, Takada Y", "reference": { "type": "PubMed", "id": "23469107", "url": "https://pubmed.ncbi.nlm.nih.gov/23469107" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 50, "end_pos": 50, "sequence_org": "R", "sequence_mut": "E", "comment": "Dominant-negative mutant. Defective in integrin-binding and in ternary complex formation with integrin and FGFR1. No effect on heparin- and FGFR1-binding. Defective in inducing FGF1 signaling, cell proliferation and cell migration. Defective in inducing angiogenesis, and suppression of angiogenesis in different in vitro and in vivo angiogenesis models.", "evidence": [ { "database": "UniProtKB", "id": "P05230", "url": "https://www.uniprot.org/uniprotkb/P05230" }, { "database": "PubMed", "id": "20422052", "url": "https://pubmed.ncbi.nlm.nih.gov/20422052" }, { "database": "PubMed", "id": "23469107", "url": "https://pubmed.ncbi.nlm.nih.gov/23469107" }, { "database": "PubMed", "id": "18441324", "url": "https://pubmed.ncbi.nlm.nih.gov/18441324" } ], "uniprot_canonical_ac": "P05230-1" } ], "record_id": "pubmed.23469107", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Amino-terminal sequence of a large form of basic fibroblast growth factor isolated from human benign prostatic hyperplastic tissue.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1987", "authors": "Story M T, Esch F, Shimasaki S, Sasse J, Jacobs S C, Lawson R K", "reference": { "type": "PubMed", "id": "2435284", "url": "https://pubmed.ncbi.nlm.nih.gov/2435284" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2435284", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cloning and expression of cDNA encoding human basic fibroblast growth factor.", "journal": "FEBS Lett.", "date": "1987", "authors": "Kurokawa T, Sasada R, Iwane M, Igarashi K", "reference": { "type": "PubMed", "id": "2435575", "url": "https://pubmed.ncbi.nlm.nih.gov/2435575" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2435575", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "High molecular mass forms of basic fibroblast growth factor are initiated by alternative CUG codons.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1989", "authors": "Prats H, Kaghad M, Prats AC, Klagsbrun M, Lelias JM, Liauzun P, Chalon P, Tauber JP, Amalric F, Smith JA, et al.", "reference": { "type": "PubMed", "id": "2538817", "url": "https://pubmed.ncbi.nlm.nih.gov/2538817" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2538817", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Basic fibroblast growth factor is a substrate for protein phosphorylation and is phosphorylated by capillary endothelial cells in culture.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Feige JJ, Baird A", "reference": { "type": "PubMed", "id": "2541433", "url": "https://pubmed.ncbi.nlm.nih.gov/2541433" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 254, "end_pos": 254, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09038", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09038" }, { "database": "PubMed", "id": "2541433", "url": "https://pubmed.ncbi.nlm.nih.gov/2541433" } ], "site_lbl": "Thr254", "uniprot_canonical_ac": "P09038-4" } ], "record_id": "pubmed.2541433", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl", "uniprot_canonical_ac" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The integrin-binding defective FGF2 mutants potently suppress FGF2 signalling and angiogenesis.", "journal": "Bioscience reports", "date": "2017", "authors": "Mori S, Hatori N, Kawaguchi N, Hamada Y, Shih TC, Wu CY, Lam KS, Matsuura N, Yamamoto H, Takada YK, Takada Y", "reference": { "type": "PubMed", "id": "28302677", "url": "https://pubmed.ncbi.nlm.nih.gov/28302677" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06756-1", "protein_name": "Integrin alpha-V", "gene_name": "ITGAV", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05106-1", "protein_name": "Integrin beta-3", "gene_name": "ITGB3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 181, "end_pos": 181, "sequence_org": "R", "sequence_mut": "E", "comment": "No effect on integrin binding.", "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" }, { "database": "PubMed", "id": "28302677", "url": "https://pubmed.ncbi.nlm.nih.gov/28302677" } ], "uniprot_canonical_ac": "P09038-4" }, { "start_pos": 186, "end_pos": 186, "sequence_org": "R", "sequence_mut": "E", "comment": "No effect on integrin binding.", "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" }, { "database": "PubMed", "id": "28302677", "url": "https://pubmed.ncbi.nlm.nih.gov/28302677" } ], "uniprot_canonical_ac": "P09038-4" }, { "start_pos": 188, "end_pos": 188, "sequence_org": "K", "sequence_mut": "E", "comment": "No effect on integrin binding.", "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" }, { "database": "PubMed", "id": "28302677", "url": "https://pubmed.ncbi.nlm.nih.gov/28302677" } ], "uniprot_canonical_ac": "P09038-4" }, { "start_pos": 261, "end_pos": 262, "sequence_org": "KR", "sequence_mut": "EE", "comment": "Abolishes binding to integrin ITGAV:ITGB3 and suppresses FGF2 signaling with loss of ERK1/2 activation and reduced ability to induce DNA synthesis, cell migration and angiogenesis. Acts as a potent antagonist of FGF2-mediated angiogenesis.", "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" }, { "database": "PubMed", "id": "28302677", "url": "https://pubmed.ncbi.nlm.nih.gov/28302677" } ], "uniprot_canonical_ac": "P09038-4" }, { "start_pos": 267, "end_pos": 267, "sequence_org": "K", "sequence_mut": "E", "comment": "Reduces binding to integrin ITGAV:ITGB3 and suppresses FGF2 signaling with reduced ERK1/2 activation and reduced ability to induce DNA synthesis, cell migration and angiogenesis. Acts as a potent antagonist of FGF2-mediated angiogenesis.", "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" }, { "database": "PubMed", "id": "28302677", "url": "https://pubmed.ncbi.nlm.nih.gov/28302677" } ], "uniprot_canonical_ac": "P09038-4" } ], "record_id": "pubmed.28302677", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Human basic fibroblast growth factor: nucleotide sequence, genomic organization, and expression in mammalian cells.", "journal": "Cold Spring Harb. Symp. Quant. Biol.", "date": "1986", "authors": "Abraham J A, Whang J L, Tumolo A, Mergia A, Fiddes J C", "reference": { "type": "PubMed", "id": "3472745", "url": "https://pubmed.ncbi.nlm.nih.gov/3472745" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P03969-1", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Bovine" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3472745", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A form of human basic fibroblast growth factor with an extended amino terminus.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1987", "authors": "Sommer A, Brewer M T, Thompson R C, Moscatelli D, Presta M, Rifkin D B", "reference": { "type": "PubMed", "id": "3579930", "url": "https://pubmed.ncbi.nlm.nih.gov/3579930" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3579930", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Partial molecular characterization of endothelial cell mitogens from human brain: acidic and basic fibroblast growth factors.", "journal": "FEBS letters", "date": "1986-08-18", "authors": "Gautschi P, Fr\u00e0ter-Schr\u00f6der M, B\u00f6hlen P", "reference": { "type": "PubMed", "id": "3732516", "url": "https://pubmed.ncbi.nlm.nih.gov/3732516" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3732516", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Human basic fibroblast growth factor: nucleotide sequence and genomic organization.", "journal": "EMBO J.", "date": "1986", "authors": "Abraham J A, Whang J L, Tumolo A, Mergia A, Friedman J, Gospodarowicz D, Fiddes J C", "reference": { "type": "PubMed", "id": "3780670", "url": "https://pubmed.ncbi.nlm.nih.gov/3780670" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3780670", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cancer-associated fibroblasts promote gastric cancer cell proliferation by paracrine FGF2-driven ribosome biogenesis.", "journal": "International immunopharmacology", "date": "2024-04-20", "authors": "Li Dandan, Huang Pan, Xia Lingyun, Leng Weidong, Qin Shanshan", "reference": { "type": "PubMed", "id": "38479160", "url": "https://pubmed.ncbi.nlm.nih.gov/38479160" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38479160", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Direct programming of human pluripotent stem cells into endothelial progenitors with SOX17 and FGF2.", "journal": "Stem cell reports", "date": "2024-04-09", "authors": "Ream Michael W, Randolph Lauren N, Jiang Yuqian, Chang Yun, Bao Xiaoping, Lian Xiaojun Lance", "reference": { "type": "PubMed", "id": "38518781", "url": "https://pubmed.ncbi.nlm.nih.gov/38518781" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H6I2-1", "protein_name": "Transcription factor SOX-17", "gene_name": "SOX17", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38518781", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Knockdown the moyamoya disease susceptibility gene, RNF213, upregulates the expression of basic fibroblast growth factor and matrix metalloproteinase-9 in bone marrow derived mesenchymal stem cells.", "journal": "Neurosurgical review", "date": "2024-05-30", "authors": "Li Zhengyou, Liu Yang, Li Xiumei, Yang Shaojing, Feng Song, Li Genhua, Jin Feng, Nie Shanjing", "reference": { "type": "PubMed", "id": "38811382", "url": "https://pubmed.ncbi.nlm.nih.gov/38811382" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13109-1", "protein_name": "Fibroblast growth factor 2", "gene_name": "Fgf2", "tax_name": "Rat" }, { "uniprot_canonical_ac": "P50282-1", "protein_name": "Matrix metalloproteinase-9", "gene_name": "Mmp9", "tax_name": "Rat" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38811382", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "LNMAC Promotes Cervical Squamous Cell Carcinoma Lymphatic Metastasis via Epigenetic Regulation of FGF2-Induced Lymphangiogenesis.", "journal": "Advanced science (Weinheim, Baden-Wurttemberg, Germany)", "date": "2024-10", "authors": "Zhang Chunyu, Yuan Li, Wen Weijia, Shao Caixia, Liao Yuandong, Jia Yan, Zhao Xueyuan, Liao Yan, Xu Dingze, Chen Linna, Yang Guofen, Jiang Hongye, Wang Wei, Yao Shuzhong", "reference": { "type": "PubMed", "id": "39119899", "url": "https://pubmed.ncbi.nlm.nih.gov/39119899" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.39119899", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Human brain-derived acidic and basic fibroblast growth factors: amino terminal sequences and specific mitogenic activities.", "journal": "Biochemical and biophysical research communications", "date": "1986-03-13", "authors": "Gimenez-Gallego G, Conn G, Hatcher V B, Thomas K A", "reference": { "type": "PubMed", "id": "3964259", "url": "https://pubmed.ncbi.nlm.nih.gov/3964259" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3964259", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Refinement of the structure of human basic fibroblast growth factor at 1.6-A resolution and analysis of presumed heparin binding sites by selenate substitution.", "journal": "Protein Sci.", "date": "1993", "authors": "Eriksson A E, Cousens L S, Matthews B W", "reference": { "type": "PubMed", "id": "7691311", "url": "https://pubmed.ncbi.nlm.nih.gov/7691311" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7691311", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.", "journal": "Nature genetics", "date": "1994", "authors": "Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, et al.", "reference": { "type": "PubMed", "id": "7874169", "url": "https://pubmed.ncbi.nlm.nih.gov/7874169" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10767-1", "protein_name": "Fibroblast growth factor 6", "gene_name": "FGF6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08620-1", "protein_name": "Fibroblast growth factor 4", "gene_name": "FGF4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31371-1", "protein_name": "Fibroblast growth factor 9", "gene_name": "FGF9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11362-1", "protein_name": "Fibroblast growth factor receptor 1", "gene_name": "FGFR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05230-1", "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV9-1", "protein_name": "Fibroblast growth factor 23", "gene_name": "FGF23", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NP95-1", "protein_name": "Fibroblast growth factor 20", "gene_name": "FGF20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121909627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909627" }, { "id": "rs121909627", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909627" }, { "id": "rs121909627", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909627#frequency_tab" }, { "id": "rs121909627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909627" }, { "id": "10861678", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10861678" }, { "id": "14613973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/14613973" }, { "id": "7874169", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7874169" } ], "glycoeffect": [], "start_pos": 252, "end_pos": 252, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "38424690", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P252", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0090070", "recommended_name": { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." }, "synonyms": [ { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "congenital idiopathic hypogonadotropic hypogonadism", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "isolated congenital gonadotropin deficiency", "description": "" }, { "id": "DOID:0090070", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090070", "name": "hypogonadotropism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ] }, { "disease_id": "DOID:0090083", "recommended_name": { "id": "DOID:0090083", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes." }, "synonyms": [ { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "FGFR1 hypogonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "hypogonadotropic hypogonadism caused by mutation in FGFR1", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "HH2", "description": "" }, { "id": "MONDO:0007844", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007844", "name": "KAL2", "description": "" }, { "id": "MIM:147950", "resource": "MIM", "url": "https://www.omim.org/entry/147950", "name": "Hypogonadotropic hypogonadism 2 with or without anosmia", "description": "Hypogonadotropic hypogonadism 2 with or without anosmia" } ], "unlinked_id_list": [], "evidence": [ { "id": "147950", "database": "MIM", "url": "https://www.omim.org/entry/147950" }, { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ] }, { "disease_id": "DOID:0111337", "recommended_name": { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." }, "synonyms": [ { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "JWS", "description": "" }, { "id": "DOID:0111337", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111337", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "JWS", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "Jackson-Weiss syndrome", "description": "" }, { "id": "MONDO:0007400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007400", "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "description": "" }, { "id": "MIM:123150", "resource": "MIM", "url": "https://www.omim.org/entry/123150", "name": "Jackson-Weiss syndrome", "description": "Jackson-Weiss syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" }, { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ] }, { "disease_id": "DOID:0111532", "recommended_name": { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23." }, "synonyms": [ { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "OGD", "description": "" }, { "id": "DOID:0111532", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111532", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "FGFR1-related osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "OGD", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dwarfism", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "osteoglophonic dysplasia", "description": "" }, { "id": "MONDO:0008150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008150", "name": "Fairbank-Keats syndrome", "description": "" }, { "id": "MIM:166250", "resource": "MIM", "url": "https://www.omim.org/entry/166250", "name": "Osteoglophonic dysplasia", "description": "Osteoglophonic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "166250", "database": "MIM", "url": "https://www.omim.org/entry/166250" }, { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ] }, { "disease_id": "DOID:14705", "recommended_name": { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:14705", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14705", "name": "acrocephalosyndactylia type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "ACS5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type 5", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "acrocephalosyndactyly type V", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "type V Acrocephalosyndactyly", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Noack syndrome", "description": "" }, { "id": "MONDO:0007043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007043", "name": "Pfeiffer type acrocephalosyndactyly", "description": "" }, { "id": "MIM:101600", "resource": "MIM", "url": "https://www.omim.org/entry/101600", "name": "Pfeiffer syndrome", "description": "Pfeiffer syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" }, { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ] } ], "filter_code": "000000000000001000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P11362-1" } ], "record_id": "pubmed.7874169", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Human amniotic tumor that induces new bone formation in vivo produces growth-regulatory activity in vitro for osteoblasts identified as an extended form of basic fibroblast growth factor.", "journal": "Cancer Res.", "date": "1996", "authors": "Izbicka E, Dunstan C, Esparza J, Jacobs C, Sabatini M, Mundy G R", "reference": { "type": "PubMed", "id": "8564983", "url": "https://pubmed.ncbi.nlm.nih.gov/8564983" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09038-4", "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P09038", "url": "https://www.uniprot.org/uniprotkb/P09038" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8564983", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] } ]