[ { "title": "Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1.", "journal": "Nature", "date": "1991", "authors": "Bischoff FR, Ponstingl H", "reference": { "type": "PubMed", "id": "1944575", "url": "https://pubmed.ncbi.nlm.nih.gov/1944575" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8CG34-1", "protein_name": "Nuclear envelope pore membrane protein POM 121C", "gene_name": "POM121C", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35658-1", "protein_name": "Nuclear pore complex protein Nup214", "gene_name": "NUP214", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92621-1", "protein_name": "Nuclear pore complex protein Nup205", "gene_name": "NUP205", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5SRE5-1", "protein_name": "Nucleoporin NUP188", "gene_name": "NUP188", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BW27-1", "protein_name": "Nuclear pore complex protein Nup85", "gene_name": "NUP85", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15504-1", "protein_name": "Nucleoporin NUP42", "gene_name": "NUP42", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKX7-1", "protein_name": "Nuclear pore complex protein Nup50", "gene_name": "NUP50", "tax_name": "Human" }, { "uniprot_canonical_ac": "P57740-1", "protein_name": "Nuclear pore complex protein Nup107", "gene_name": "NUP107", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WUM0-1", "protein_name": "Nuclear pore complex protein Nup133", "gene_name": "NUP133", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BTX1-1", "protein_name": "Nucleoporin NDC1", "gene_name": "NDC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFH3-1", "protein_name": "Nucleoporin Nup43", "gene_name": "NUP43", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18754-1", "protein_name": "Regulator of chromosome condensation", "gene_name": "RCC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TEM1-1", "protein_name": "Nuclear pore membrane glycoprotein 210", "gene_name": "NUP210", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55735-1", "protein_name": "Protein SEC13 homolog", "gene_name": "SEC13", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75694-1", "protein_name": "Nuclear pore complex protein Nup155", "gene_name": "NUP155", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFH5-1", "protein_name": "Nucleoporin NUP35", "gene_name": "NUP35", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14980-1", "protein_name": "Exportin-1", "gene_name": "XPO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96HA1-1", "protein_name": "Nuclear envelope pore membrane protein POM 121", "gene_name": "POM121", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49790-1", "protein_name": "Nuclear pore complex protein Nup153", "gene_name": "NUP153", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12769-1", "protein_name": "Nuclear pore complex protein Nup160", "gene_name": "NUP160", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49792-1", "protein_name": "E3 SUMO-protein ligase RanBP2", "gene_name": "RANBP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99567-1", "protein_name": "Nuclear pore complex protein Nup88", "gene_name": "NUP88", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43487-1", "protein_name": "Ran-specific GTPase-activating protein", "gene_name": "RANBP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46060-1", "protein_name": "Ran GTPase-activating protein 1", "gene_name": "RANGAP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P78406-1", "protein_name": "mRNA export factor RAE1", "gene_name": "RAE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFH4-1", "protein_name": "Nucleoporin Nup37", "gene_name": "NUP37", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N1F7-1", "protein_name": "Nuclear pore 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Mol. Biol.", "date": "2009", "authors": "Partridge JR, Schwartz TU", "reference": { "type": "PubMed", "id": "19505478", "url": "https://pubmed.ncbi.nlm.nih.gov/19505478" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49791-1", "protein_name": "Nuclear pore complex protein Nup153", "gene_name": "Nup153", "tax_name": "Rat" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19505478", "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": "Mitotic regulator protein RCC1 is complexed with a nuclear ras-related polypeptide.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1991", "authors": "Bischoff F R, Ponstingl H", "reference": { "type": "PubMed", "id": "1961752", "url": "https://pubmed.ncbi.nlm.nih.gov/1961752" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1961752", "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": [ 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"tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCN4-1", "protein_name": "GPN-loop GTPase 1", "gene_name": "GPN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62906-1", "protein_name": "Large ribosomal subunit protein uL1", "gene_name": "RPL10A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07910-1", "protein_name": "Heterogeneous nuclear ribonucleoproteins C1/C2", "gene_name": "HNRNPC", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06576-1", "protein_name": "ATP synthase F(1) complex subunit beta, mitochondrial", "gene_name": "ATP5F1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P31327-1", "protein_name": "Carbamoyl-phosphate synthase [ammonia], mitochondrial", "gene_name": "CPS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P23528-1", "protein_name": "Cofilin-1", "gene_name": "CFL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15758-1", "protein_name": "Neutral amino acid transporter B(0)", "gene_name": "SLC1A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11142-1", "protein_name": "Heat shock cognate 71 kDa protein", "gene_name": "HSPA8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P57059-1", "protein_name": "Serine/threonine-protein kinase SIK1", "gene_name": "SIK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P19338-1", "protein_name": "Nucleolin", "gene_name": "NCL", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63261-1", "protein_name": "Actin, cytoplasmic 2", "gene_name": "ACTG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07355-1", "protein_name": "Annexin A2", "gene_name": "ANXA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q08211-1", "protein_name": "ATP-dependent RNA helicase A", "gene_name": "DHX9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q09472-1", "protein_name": "Histone acetyltransferase p300", "gene_name": "EP300", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12769-1", "protein_name": "Nuclear pore complex protein Nup160", "gene_name": "NUP160", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43324-1", "protein_name": "Eukaryotic translation elongation factor 1 epsilon-1", "gene_name": "EEF1E1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6V7-1", "protein_name": "Probable ATP-dependent RNA helicase DDX49", "gene_name": "DDX49", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15121-1", "protein_name": "Sphingolipid delta(4)-desaturase DES1", "gene_name": "DEGS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q93077-1", "protein_name": "Histone H2A type 1-C", "gene_name": "H2AC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14635-1", "protein_name": "G2/mitotic-specific cyclin-B1", "gene_name": "CCNB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00303-1", "protein_name": "Eukaryotic translation initiation factor 3 subunit F", "gene_name": "EIF3F", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQE7-1", "protein_name": "Structural maintenance of chromosomes protein 3", "gene_name": "SMC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14625-1", "protein_name": "Endoplasmin", "gene_name": "HSP90B1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15005-1", "protein_name": "Signal peptidase complex subunit 2", "gene_name": "SPCS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49815-1", "protein_name": "Tuberin", "gene_name": "TSC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRG9-1", "protein_name": "Aladin", "gene_name": "AAAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P01889-1", "protein_name": "HLA class I histocompatibility antigen, B alpha chain", "gene_name": "HLA-B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41743-1", "protein_name": "Protein kinase C iota type", "gene_name": "PRKCI", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19748539", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 58 } ], "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 }, { 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"field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "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 mitotic arrest deficient protein MAD2B interacts with the small GTPase RAN throughout the cell cycle.", "journal": "PLoS ONE", "date": "2009", "authors": "Medendorp Klaas, van Groningen Jan J M, Vreede Lilian, Hetterschijt Lisette, van den Hurk Wilhelmina H, de Bruijn Diederik R H, Brugmans Linda, van Kessel Ad Geurts", "reference": { "type": "PubMed", "id": "19753112", "url": "https://pubmed.ncbi.nlm.nih.gov/19753112" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UI95-1", "protein_name": "Mitotic spindle assembly checkpoint protein MAD2B", "gene_name": "MAD2L2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19753112", "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": "Specific complex of human immunodeficiency virus type 1 rev and nucleolar B23 proteins: dissociation by the Rev response element.", "journal": "Molecular and cellular biology", "date": "1991", "authors": "Fankhauser C, Izaurralde E, Adachi Y, Wingfield P, Laemmli UK", "reference": { "type": "PubMed", "id": "2017166", "url": "https://pubmed.ncbi.nlm.nih.gov/2017166" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8CG34-1", "protein_name": "Nuclear envelope pore membrane protein POM 121C", "gene_name": "POM121C", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35658-1", "protein_name": "Nuclear pore complex protein Nup214", "gene_name": "NUP214", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92621-1", "protein_name": "Nuclear pore complex protein Nup205", "gene_name": "NUP205", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5SRE5-1", "protein_name": "Nucleoporin NUP188", "gene_name": "NUP188", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BW27-1", "protein_name": "Nuclear pore complex protein Nup85", "gene_name": "NUP85", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15504-1", "protein_name": "Nucleoporin NUP42", "gene_name": "NUP42", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKX7-1", "protein_name": "Nuclear pore complex protein Nup50", "gene_name": "NUP50", "tax_name": "Human" }, { "uniprot_canonical_ac": "P57740-1", "protein_name": "Nuclear pore complex protein Nup107", "gene_name": "NUP107", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WUM0-1", "protein_name": "Nuclear pore complex protein Nup133", "gene_name": "NUP133", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BTX1-1", "protein_name": "Nucleoporin NDC1", "gene_name": "NDC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFH3-1", "protein_name": "Nucleoporin Nup43", "gene_name": "NUP43", "tax_name": "Human" }, { "uniprot_canonical_ac": "P18754-1", "protein_name": "Regulator of chromosome condensation", "gene_name": "RCC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TEM1-1", "protein_name": "Nuclear pore membrane glycoprotein 210", "gene_name": "NUP210", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55735-1", "protein_name": "Protein SEC13 homolog", "gene_name": "SEC13", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75694-1", "protein_name": "Nuclear pore complex protein Nup155", "gene_name": "NUP155", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFH5-1", "protein_name": "Nucleoporin NUP35", "gene_name": "NUP35", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96HA1-1", "protein_name": "Nuclear envelope pore membrane protein POM 121", "gene_name": "POM121", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06748-1", "protein_name": "Nucleophosmin", "gene_name": "NPM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49790-1", "protein_name": "Nuclear pore complex protein Nup153", "gene_name": "NUP153", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12769-1", "protein_name": "Nuclear pore complex protein Nup160", "gene_name": "NUP160", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49792-1", "protein_name": "E3 SUMO-protein ligase RanBP2", "gene_name": "RANBP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99567-1", "protein_name": "Nuclear pore complex protein Nup88", "gene_name": "NUP88", "tax_name": "Human" }, { "uniprot_canonical_ac": "P78406-1", "protein_name": "mRNA export factor RAE1", "gene_name": "RAE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFH4-1", "protein_name": "Nucleoporin Nup37", "gene_name": "NUP37", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N1F7-1", "protein_name": "Nuclear pore complex protein Nup93", "gene_name": "NUP93", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z3B4-1", "protein_name": "Nucleoporin p54", "gene_name": "NUP54", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12270-1", "protein_name": "Nucleoprotein TPR", "gene_name": "TPR", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14974-1", "protein_name": "Importin subunit beta-1", "gene_name": "KPNB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRG9-1", "protein_name": "Aladin", "gene_name": "AAAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P37198-1", "protein_name": "Nuclear pore glycoprotein p62", "gene_name": "NUP62", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2017166", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 31 } ], "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": 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"o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_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": "An allosteric mechanism to displace nuclear export cargo from CRM1 and RanGTP by RanBP1.", "journal": "The EMBO journal", "date": "2010-06-16", "authors": "Koyama Masako, Matsuura Yoshiyuki", "reference": { "type": "PubMed", "id": "20485264", "url": "https://pubmed.ncbi.nlm.nih.gov/20485264" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43487-1", "protein_name": "Ran-specific GTPase-activating protein", "gene_name": "RANBP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20485264", "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": "Subgroup II PAK-mediated phosphorylation regulates Ran activity during mitosis.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Bompard G, Rabeharivelo G, Frank M, Cau J, Delsert C, Morin N", "reference": { "type": "PubMed", "id": "20805321", "url": "https://pubmed.ncbi.nlm.nih.gov/20805321" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O96013-1", "protein_name": "Serine/threonine-protein kinase PAK 4", "gene_name": "PAK4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 135, "end_pos": 135, "kinase_uniprot_canonical_ac": "O96013-1", "kinase_gene_name": "PAK4", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P62826", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62826" }, { "database": "PubMed", "id": "20805321", "url": "https://pubmed.ncbi.nlm.nih.gov/20805321" } ], "site_lbl": "Ser135", "uniprot_canonical_ac": "P62826-1" } ], "record_id": "pubmed.20805321", "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": "Structural basis for cooperative RNA binding and export complex assembly by HIV Rev.", "journal": "Nature structural & molecular biology", "date": "2010", "authors": "Daugherty MD, Liu B, Frankel AD", "reference": { "type": "PubMed", "id": "20953181", "url": "https://pubmed.ncbi.nlm.nih.gov/20953181" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8CG34-1", "protein_name": "Nuclear envelope pore membrane protein POM 121C", "gene_name": "POM121C", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35658-1", "protein_name": "Nuclear pore complex protein Nup214", "gene_name": "NUP214", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92621-1", "protein_name": "Nuclear pore complex protein Nup205", "gene_name": "NUP205", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5SRE5-1", "protein_name": "Nucleoporin NUP188", "gene_name": "NUP188", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BW27-1", "protein_name": "Nuclear pore complex protein Nup85", "gene_name": "NUP85", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15504-1", "protein_name": "Nucleoporin NUP42", "gene_name": "NUP42", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKX7-1", "protein_name": "Nuclear pore complex protein Nup50", "gene_name": "NUP50", "tax_name": "Human" }, { "uniprot_canonical_ac": "P57740-1", "protein_name": "Nuclear pore complex protein Nup107", "gene_name": "NUP107", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WUM0-1", "protein_name": "Nuclear pore complex protein Nup133", "gene_name": "NUP133", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BTX1-1", "protein_name": "Nucleoporin 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"Nuclear envelope pore membrane protein POM 121", "gene_name": "POM121", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49790-1", "protein_name": "Nuclear pore complex protein Nup153", "gene_name": "NUP153", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12769-1", "protein_name": "Nuclear pore complex protein Nup160", "gene_name": "NUP160", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49792-1", "protein_name": "E3 SUMO-protein ligase RanBP2", "gene_name": "RANBP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99567-1", "protein_name": "Nuclear pore complex protein Nup88", "gene_name": "NUP88", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43487-1", "protein_name": "Ran-specific GTPase-activating protein", "gene_name": "RANBP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46060-1", "protein_name": "Ran GTPase-activating protein 1", "gene_name": "RANGAP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P78406-1", "protein_name": "mRNA export factor RAE1", "gene_name": "RAE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFH4-1", "protein_name": "Nucleoporin Nup37", "gene_name": "NUP37", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N1F7-1", "protein_name": "Nuclear pore complex protein Nup93", "gene_name": "NUP93", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z3B4-1", "protein_name": "Nucleoporin p54", "gene_name": "NUP54", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12270-1", "protein_name": "Nucleoprotein TPR", "gene_name": "TPR", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRG9-1", "protein_name": "Aladin", "gene_name": "AAAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P37198-1", "protein_name": "Nuclear pore glycoprotein p62", "gene_name": "NUP62", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20953181", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 32 } ], "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 }, { 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"field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "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": "Abacavir induces loading of novel self-peptides into HLA-B*57: 01: an autoimmune model for HLA-associated drug hypersensitivity.", "journal": "AIDS (London, England)", "date": "2012-07-17", "authors": "Norcross Michael A, Luo Shen, Lu Li, Boyne Michael T, Gomarteli Mary, Rennels Aaron D, Woodcock Janet, Margulies David H, McMurtrey Curtis, Vernon Stephen, Hildebrand William H, Buchli Rico", "reference": { "type": "PubMed", "id": "22617051", "url": "https://pubmed.ncbi.nlm.nih.gov/22617051" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62873-1", "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1", "gene_name": "GNB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49368-1", "protein_name": "T-complex protein 1 subunit gamma", "gene_name": "CCT3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49585-1", "protein_name": "Choline-phosphate cytidylyltransferase A", "gene_name": "PCYT1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04844-1", "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2", "gene_name": "RPN2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02878-1", "protein_name": "Large ribosomal subunit protein eL6", "gene_name": "RPL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y617-1", "protein_name": "Phosphoserine aminotransferase", "gene_name": "PSAT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03001-7", "protein_name": "Dystonin", "gene_name": "DST", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6PL18-1", "protein_name": "ATPase family AAA domain-containing protein 2", "gene_name": "ATAD2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P19387-1", "protein_name": "DNA-directed RNA polymerase II subunit RPB3", "gene_name": "POLR2C", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55209-1", "protein_name": "Nucleosome assembly protein 1-like 1", "gene_name": "NAP1L1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20591-1", "protein_name": "Interferon-induced GTP-binding protein Mx1", "gene_name": "MX1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WUD4-1", "protein_name": "Coiled-coil domain-containing protein 12", "gene_name": "CCDC12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y606-1", "protein_name": "Pseudouridylate synthase 1 homolog", "gene_name": "PUS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y5L0-2", "protein_name": "Transportin-3", "gene_name": "TNPO3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00767-1", "protein_name": "Stearoyl-CoA desaturase", "gene_name": "SCD", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62805-1", "protein_name": "Histone H4", "gene_name": "H4C11; H4C12; H4C13; H4C14; H4C15; H4C16; H4C1; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4C9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N8D1-1", "protein_name": "Programmed cell death protein 7", "gene_name": "PDCD7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86Y39-1", "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11", "gene_name": "NDUFA11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NUQ2-1", "protein_name": "1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon", "gene_name": "AGPAT5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N2W9-1", "protein_name": "E3 SUMO-protein ligase PIAS4", "gene_name": "PIAS4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14157-2", "protein_name": "Ubiquitin-associated protein 2-like", "gene_name": "UBAP2L", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6UN15-1", "protein_name": "Pre-mRNA 3'-end-processing factor FIP1", "gene_name": "FIP1L1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y4F4-1", "protein_name": "TOG array regulator of axonemal microtubules protein 1", "gene_name": "TOGARAM1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22617051", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 24 } ], "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": "Interaction of transportin-SR2 with Ras-related 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the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Bischoff FR, Krebber H, Kempf T, Hermes I, Ponstingl H", "reference": { "type": "PubMed", "id": "7878053", "url": "https://pubmed.ncbi.nlm.nih.gov/7878053" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8CG34-1", "protein_name": "Nuclear envelope pore membrane protein POM 121C", "gene_name": "POM121C", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35658-1", "protein_name": "Nuclear pore complex protein Nup214", "gene_name": "NUP214", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92621-1", "protein_name": "Nuclear pore complex protein Nup205", "gene_name": "NUP205", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5SRE5-1", "protein_name": "Nucleoporin NUP188", "gene_name": "NUP188", "tax_name": "Human" }, { 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"protein_name": "Nucleoporin Nup37", "gene_name": "NUP37", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N1F7-1", "protein_name": "Nuclear pore complex protein Nup93", "gene_name": "NUP93", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z3B4-1", "protein_name": "Nucleoporin p54", "gene_name": "NUP54", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12270-1", "protein_name": "Nucleoprotein TPR", "gene_name": "TPR", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRG9-1", "protein_name": "Aladin", "gene_name": "AAAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P37198-1", "protein_name": "Nuclear pore glycoprotein p62", "gene_name": "NUP62", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7958838", 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"uniprot_canonical_ac": "O15504-1", "protein_name": "Nucleoporin NUP42", "gene_name": "NUP42", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKX7-1", "protein_name": "Nuclear pore complex protein Nup50", "gene_name": "NUP50", "tax_name": "Human" }, { "uniprot_canonical_ac": "P57740-1", "protein_name": "Nuclear pore complex protein Nup107", "gene_name": "NUP107", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WUM0-1", "protein_name": "Nuclear pore complex protein Nup133", "gene_name": "NUP133", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BTX1-1", "protein_name": "Nucleoporin NDC1", "gene_name": "NDC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFH3-1", "protein_name": "Nucleoporin Nup43", "gene_name": "NUP43", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TEM1-1", "protein_name": "Nuclear pore membrane glycoprotein 210", "gene_name": "NUP210", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55735-1", "protein_name": "Protein SEC13 homolog", 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"uniprot_canonical_ac": "Q99567-1", "protein_name": "Nuclear pore complex protein Nup88", "gene_name": "NUP88", "tax_name": "Human" }, { "uniprot_canonical_ac": "P78406-1", "protein_name": "mRNA export factor RAE1", "gene_name": "RAE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFH4-1", "protein_name": "Nucleoporin Nup37", "gene_name": "NUP37", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N1F7-1", "protein_name": "Nuclear pore complex protein Nup93", "gene_name": "NUP93", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z3B4-1", "protein_name": "Nucleoporin p54", "gene_name": "NUP54", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12270-1", "protein_name": "Nucleoprotein TPR", "gene_name": "TPR", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRG9-1", "protein_name": "Aladin", "gene_name": "AAAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P37198-1", "protein_name": "Nuclear pore glycoprotein p62", "gene_name": "NUP62", "tax_name": "Human" } ], 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Inhibition of nuclear protein import by nonhydrolyzable analogues of GTP and identification of the small GTPase Ran/TC4 as an essential transport factor.", "journal": "The Journal of cell biology", "date": "1993-12", "authors": "Melchior F, Paschal B, Evans J, Gerace L", "reference": { "type": "PubMed", "id": "8276887", "url": "https://pubmed.ncbi.nlm.nih.gov/8276887" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8276887", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], 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Decreases nuclear import of proteins and RNA. Stabilizes the interaction with RCC1. No effect on nuclear location during interphase. Loss of activity in triggering microtubule assembly at mitotic chromosomes.", "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" }, { "database": "PubMed", "id": "10408446", "url": "https://pubmed.ncbi.nlm.nih.gov/10408446" }, { "database": "PubMed", "id": "9351834", "url": "https://pubmed.ncbi.nlm.nih.gov/9351834" }, { "database": "PubMed", "id": "7819259", "url": "https://pubmed.ncbi.nlm.nih.gov/7819259" }, { "database": "PubMed", "id": "12194828", "url": "https://pubmed.ncbi.nlm.nih.gov/12194828" }, { "database": "PubMed", "id": "8636225", "url": "https://pubmed.ncbi.nlm.nih.gov/8636225" } ], "uniprot_canonical_ac": "P62826-1" }, { "start_pos": 69, "end_pos": 69, "sequence_org": "Q", "sequence_mut": "L", "comment": "Strongly decreased GTPase activity. Probably locked in the GTP-bound form. Loss of interaction with NUTF2. Decreases nuclear location and leads to cytoplasmic location during interphase. Loss of function in importin-mediated protein nuclear import. High activity in triggering microtubule assembly at mitotic chromosomes. Blocks DNA replication; when associated with V-19.", "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" }, { "database": "PubMed", "id": "8421051", "url": "https://pubmed.ncbi.nlm.nih.gov/8421051" }, { "database": "PubMed", "id": "9822603", "url": "https://pubmed.ncbi.nlm.nih.gov/9822603" }, { "database": "PubMed", "id": "17209048", "url": "https://pubmed.ncbi.nlm.nih.gov/17209048" }, { "database": "PubMed", "id": "10408446", "url": "https://pubmed.ncbi.nlm.nih.gov/10408446" }, { "database": "PubMed", "id": "9351834", "url": "https://pubmed.ncbi.nlm.nih.gov/9351834" }, { "database": "PubMed", "id": "7819259", "url": "https://pubmed.ncbi.nlm.nih.gov/7819259" }, { "database": "PubMed", "id": "12194828", "url": "https://pubmed.ncbi.nlm.nih.gov/12194828" }, { "database": "PubMed", "id": "18591255", "url": "https://pubmed.ncbi.nlm.nih.gov/18591255" }, { "database": "PubMed", "id": "8636225", "url": 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"table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "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 protein import: Ran-GTP dissociates the karyopherin alphabeta heterodimer by displacing alpha from an overlapping binding site on beta.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996-07-09", "authors": "Moroianu J, Blobel G, Radu A", "reference": { "type": "PubMed", "id": "8692944", "url": "https://pubmed.ncbi.nlm.nih.gov/8692944" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14974-1", "protein_name": "Importin subunit beta-1", "gene_name": "KPNB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8692944", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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"gene_name": "NUP88", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43487-1", "protein_name": "Ran-specific GTPase-activating protein", "gene_name": "RANBP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46060-1", "protein_name": "Ran GTPase-activating protein 1", "gene_name": "RANGAP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P78406-1", "protein_name": "mRNA export factor RAE1", "gene_name": "RAE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFH4-1", "protein_name": "Nucleoporin Nup37", "gene_name": "NUP37", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N1F7-1", "protein_name": "Nuclear pore complex protein Nup93", "gene_name": "NUP93", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z3B4-1", "protein_name": "Nucleoporin p54", "gene_name": "NUP54", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12270-1", "protein_name": "Nucleoprotein TPR", "gene_name": "TPR", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRG9-1", "protein_name": "Aladin", "gene_name": "AAAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P37198-1", "protein_name": "Nuclear pore glycoprotein p62", "gene_name": "NUP62", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8805303", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 32 } ], "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": 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Decreases nuclear import of proteins and RNA. Stabilizes the interaction with RCC1. No effect on nuclear location during interphase. Loss of activity in triggering microtubule assembly at mitotic chromosomes.", "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" }, { "database": "PubMed", "id": "10408446", "url": "https://pubmed.ncbi.nlm.nih.gov/10408446" }, { "database": "PubMed", "id": "9351834", "url": "https://pubmed.ncbi.nlm.nih.gov/9351834" }, { "database": "PubMed", "id": "7819259", "url": "https://pubmed.ncbi.nlm.nih.gov/7819259" }, { "database": "PubMed", "id": "12194828", "url": "https://pubmed.ncbi.nlm.nih.gov/12194828" }, { "database": "PubMed", "id": "8636225", "url": "https://pubmed.ncbi.nlm.nih.gov/8636225" } ], "uniprot_canonical_ac": "P62826-1" }, { "start_pos": 69, "end_pos": 69, "sequence_org": "Q", "sequence_mut": "L", "comment": "Strongly decreased GTPase activity. Probably locked in the GTP-bound form. Loss of interaction with NUTF2. Decreases nuclear location and leads to cytoplasmic location during interphase. Loss of function in importin-mediated protein nuclear import. High activity in triggering microtubule assembly at mitotic chromosomes. Blocks DNA replication; when associated with V-19.", "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" }, { "database": "PubMed", "id": "8421051", "url": "https://pubmed.ncbi.nlm.nih.gov/8421051" }, { "database": "PubMed", "id": "9822603", "url": "https://pubmed.ncbi.nlm.nih.gov/9822603" }, { "database": "PubMed", "id": "17209048", "url": "https://pubmed.ncbi.nlm.nih.gov/17209048" }, { "database": "PubMed", "id": "10408446", "url": "https://pubmed.ncbi.nlm.nih.gov/10408446" }, { "database": "PubMed", "id": "9351834", "url": "https://pubmed.ncbi.nlm.nih.gov/9351834" }, { "database": "PubMed", "id": "7819259", "url": "https://pubmed.ncbi.nlm.nih.gov/7819259" }, { "database": "PubMed", "id": "12194828", "url": "https://pubmed.ncbi.nlm.nih.gov/12194828" }, { "database": "PubMed", "id": "18591255", "url": "https://pubmed.ncbi.nlm.nih.gov/18591255" }, { "database": "PubMed", "id": "8636225", "url": 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importin-beta.", "journal": "Journal of molecular biology", "date": "1997", "authors": "Henderson BR, Percipalle P", "reference": { "type": "PubMed", "id": "9405152", "url": "https://pubmed.ncbi.nlm.nih.gov/9405152" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8CG34-1", "protein_name": "Nuclear envelope pore membrane protein POM 121C", "gene_name": "POM121C", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35658-1", "protein_name": "Nuclear pore complex protein Nup214", "gene_name": "NUP214", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92621-1", "protein_name": "Nuclear pore complex protein Nup205", "gene_name": "NUP205", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5SRE5-1", "protein_name": "Nucleoporin NUP188", "gene_name": "NUP188", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BW27-1", 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"Human" }, { "uniprot_canonical_ac": "Q8TEM1-1", "protein_name": "Nuclear pore membrane glycoprotein 210", "gene_name": "NUP210", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55735-1", "protein_name": "Protein SEC13 homolog", "gene_name": "SEC13", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75694-1", "protein_name": "Nuclear pore complex protein Nup155", "gene_name": "NUP155", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFH5-1", "protein_name": "Nucleoporin NUP35", "gene_name": "NUP35", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96HA1-1", "protein_name": "Nuclear envelope pore membrane protein POM 121", "gene_name": "POM121", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06748-1", "protein_name": "Nucleophosmin", "gene_name": "NPM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49790-1", "protein_name": "Nuclear pore complex protein Nup153", "gene_name": "NUP153", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12769-1", "protein_name": 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"table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_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": "NTF2 mediates nuclear import of Ran.", "journal": "The EMBO journal", "date": "1998", "authors": "Ribbeck K, Lipowsky G, Kent HM, Stewart M, Gorlich D", "reference": { "type": "PubMed", "id": "9822603", "url": "https://pubmed.ncbi.nlm.nih.gov/9822603" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61972-1", "protein_name": "Nuclear transport factor 2", "gene_name": "Nutf2", "tax_name": "Rat" } ], "species": [ { "name": 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Probably locked in the GTP-bound form. Loss of interaction with NUTF2. Decreases nuclear location and leads to cytoplasmic location during interphase. Loss of function in importin-mediated protein nuclear import. High activity in triggering microtubule assembly at mitotic chromosomes. Blocks DNA replication; when associated with V-19.", "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" }, { "database": "PubMed", "id": "8421051", "url": "https://pubmed.ncbi.nlm.nih.gov/8421051" }, { "database": "PubMed", "id": "9822603", "url": "https://pubmed.ncbi.nlm.nih.gov/9822603" }, { "database": "PubMed", "id": "17209048", "url": "https://pubmed.ncbi.nlm.nih.gov/17209048" }, { "database": "PubMed", "id": "10408446", "url": "https://pubmed.ncbi.nlm.nih.gov/10408446" }, { "database": "PubMed", "id": "9351834", "url": "https://pubmed.ncbi.nlm.nih.gov/9351834" }, { "database": "PubMed", "id": "7819259", "url": "https://pubmed.ncbi.nlm.nih.gov/7819259" }, { "database": "PubMed", "id": "12194828", "url": "https://pubmed.ncbi.nlm.nih.gov/12194828" }, { "database": "PubMed", "id": "18591255", "url": "https://pubmed.ncbi.nlm.nih.gov/18591255" }, { "database": "PubMed", "id": "8636225", "url": "https://pubmed.ncbi.nlm.nih.gov/8636225" } ], "uniprot_canonical_ac": "P62826-1" }, { "start_pos": 76, "end_pos": 76, "sequence_org": "R", "sequence_mut": "E", "comment": "Probable loss of interaction with NUTF2. Loss of transport to the nucleus.", "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" }, { "database": "PubMed", "id": "9822603", "url": "https://pubmed.ncbi.nlm.nih.gov/9822603" } ], "uniprot_canonical_ac": "P62826-1" }, { "start_pos": 42, "end_pos": 42, "sequence_org": "E", "sequence_mut": "K", "comment": "Loss of interaction with GDP-bound RAN. No effect on interaction with nucleoporins. Loss of GDP-bound RAN and other proteins nuclear import.", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" }, { "database": "PubMed", "id": "9368653", "url": "https://pubmed.ncbi.nlm.nih.gov/9368653" }, { "database": "PubMed", "id": "9822603", "url": "https://pubmed.ncbi.nlm.nih.gov/9822603" } ], "uniprot_canonical_ac": "P61972-1" } ], "record_id": "pubmed.9822603", "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": "The specificity of the CRM1-Rev nuclear export signal interaction is mediated by RanGTP.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Askjaer P, Jensen TH, Nilsson J, Englmeier L, Kjems J", "reference": { "type": "PubMed", "id": "9837918", "url": "https://pubmed.ncbi.nlm.nih.gov/9837918" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P62826-1", "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8CG34-1", "protein_name": "Nuclear envelope pore membrane protein POM 121C", "gene_name": "POM121C", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35658-1", "protein_name": "Nuclear pore complex protein Nup214", "gene_name": "NUP214", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92621-1", "protein_name": "Nuclear pore complex protein Nup205", "gene_name": "NUP205", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5SRE5-1", "protein_name": "Nucleoporin NUP188", "gene_name": "NUP188", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BW27-1", "protein_name": "Nuclear pore 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"uniprot_canonical_ac": "Q7Z3B4-1", "protein_name": "Nucleoporin p54", "gene_name": "NUP54", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12270-1", "protein_name": "Nucleoprotein TPR", "gene_name": "TPR", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NRG9-1", "protein_name": "Aladin", "gene_name": "AAAS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P37198-1", "protein_name": "Nuclear pore glycoprotein p62", "gene_name": "NUP62", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P62826", "url": "https://www.uniprot.org/uniprotkb/P62826" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9837918", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 32 } ], "sort_fields": 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Med.", "date": "2022", "authors": "Dias Kerith-Rae, Carlston Colleen M, Blok Laura E R, De Hayr Lachlan, Nawaz Urwah, Evans Carey-Anne, Bayrak-Toydemir Pinar, Htun Stephanie, Zhu Ying, Ma Alan, Lynch Sally Ann, Moorwood Catherine, Stals Karen, Ellard Sian, Bainbridge Matthew N, Friedman Jennifer, Pappas John G, Rabin Rachel, Nowak Catherine B, Douglas Jessica, Wilson Theodore E, Guillen Sacoto Maria J, Mullegama Sureni V, Palculict Timothy Blake, Kirk Edwin P, Pinner Jason R, Edwards Matthew, Montanari Francesca, Graziano Claudio, Pippucci Tommaso, Dingmann Bri, Glass Ian, Mefford Heather C, Shimoji Takeyoshi, Suzuki Toshimitsu, Yamakawa Kazuhiro, Streff Haley, Schaaf Christian P, Slavotinek Anne M, Voineagu Irina, Carey John C, Buckley Michael F, Schenck Annette, Harvey Robert J, Roscioli Tony", "reference": { "type": "PubMed", "id": "35916866", "url": "https://pubmed.ncbi.nlm.nih.gov/35916866" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q16643-1", 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"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:0110178", "recommended_name": { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21." }, "synonyms": [ { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth 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"" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "disease_id": "DOID:0111394", "recommended_name": { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2." }, "synonyms": [ { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "MPS3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "MPSIIIB", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "Mucopolysaccharidosis type 3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "N-acetyl-alpha-glucosaminidase deficiency", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "NAGLU deficiency", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS III B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPSIIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-acetyl-alpha-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type IIIB", "description": "" }, { "id": "MIM:252920", "resource": "MIM", "url": "https://www.omim.org/entry/252920", "name": "Mucopolysaccharidosis 3B", "description": "Mucopolysaccharidosis 3B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.100", "uniprot_canonical_ac": "P54802-1" }, { "evidence": [ { "id": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" 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"url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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:0110178", "recommended_name": { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21." }, "synonyms": [ { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "NAGLU Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "disease_id": "DOID:0111394", "recommended_name": { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2." }, "synonyms": [ { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "MPS3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "MPSIIIB", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "Mucopolysaccharidosis type 3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "N-acetyl-alpha-glucosaminidase deficiency", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "NAGLU deficiency", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS III B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPSIIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-acetyl-alpha-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type IIIB", "description": "" }, { "id": "MIM:252920", "resource": "MIM", "url": "https://www.omim.org/entry/252920", "name": "Mucopolysaccharidosis 3B", "description": "Mucopolysaccharidosis 3B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P54802-1" }, { "evidence": [ { "id": "rs104894595", "database": "dbSNP", "url": 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"mucopolysaccharidosis, type IIIB", "description": "" }, { "id": "MIM:252920", "resource": "MIM", "url": "https://www.omim.org/entry/252920", "name": "Mucopolysaccharidosis 3B", "description": "Mucopolysaccharidosis 3B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.100", "uniprot_canonical_ac": "P54802-1" } ], "record_id": "pubmed.10094189", "abstract": "", "glycosylation": [], "mutagenesis": [], "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": "Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Yogalingam G, Weber B, Meehan J, Rogers J, Hopwood JJ", "reference": { "type": "PubMed", "id": "11068184", 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"description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", 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{ "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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:0110178", "recommended_name": { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21." }, "synonyms": [ { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "NAGLU Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "disease_id": "DOID:0111394", "recommended_name": { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2." }, "synonyms": [ { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "MPS3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "MPSIIIB", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "Mucopolysaccharidosis type 3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "N-acetyl-alpha-glucosaminidase deficiency", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "NAGLU deficiency", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS III B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPSIIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-acetyl-alpha-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type IIIB", "description": "" }, { "id": "MIM:252920", "resource": "MIM", "url": "https://www.omim.org/entry/252920", "name": "Mucopolysaccharidosis 3B", "description": "Mucopolysaccharidosis 3B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P54802-1" }, { "evidence": [ { "id": "rs104894599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894599" }, { "id": "rs104894599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104894599" }, { "id": "rs118204024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118204024" }, { "id": "rs118204024", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs118204024" }, { "id": "11068184", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11068184" } ], "glycoeffect": [], "start_pos": 48, "end_pos": 48, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "17", "chr_pos": "42536416", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F48", "disease": [ { "disease_id": "DOID:0110178", "recommended_name": { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21." }, "synonyms": [ { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "NAGLU Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "disease_id": "DOID:0111394", "recommended_name": { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2." }, "synonyms": [ { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "MPS3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "MPSIIIB", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111394", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", 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"https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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:0110178", "recommended_name": { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21." }, "synonyms": [ { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth 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U.S.A.", "date": "1999", "authors": "Provost P, Samuelsson B, R\u00e5dmark O", "reference": { "type": "PubMed", "id": "10051563", "url": "https://pubmed.ncbi.nlm.nih.gov/10051563" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UPY3-1", "protein_name": "Endoribonuclease Dicer", "gene_name": "DICER1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WUH2-1", "protein_name": "Transforming growth factor-beta receptor-associated protein 1", "gene_name": "TGFBRAP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UPY3", "url": "https://www.uniprot.org/uniprotkb/Q9UPY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10051563", "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": "Molecular cloning and characterization of a novel human gene (HERNA) which encodes a putative RNA-helicase.", "journal": "Biochim. 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Acta", "date": "2000", "authors": "Matsuda S, Ichigotani Y, Okuda T, Irimura T, Nakatsugawa S, Hamaguchi M", "reference": { "type": "PubMed", "id": "10786632", "url": "https://pubmed.ncbi.nlm.nih.gov/10786632" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UPY3-1", "protein_name": "Endoribonuclease Dicer", "gene_name": "DICER1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UPY3", "url": "https://www.uniprot.org/uniprotkb/Q9UPY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10786632", "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" ] }, { 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"journal": "J. Mol. Biol.", "date": "2007", "authors": "Takeshita D, Zenno S, Lee WC, Nagata K, Saigo K, Tanokura M", "reference": { "type": "PubMed", "id": "17920623", "url": "https://pubmed.ncbi.nlm.nih.gov/17920623" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UPY3-1", "protein_name": "Endoribonuclease Dicer", "gene_name": "DICER1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UPY3", "url": "https://www.uniprot.org/uniprotkb/Q9UPY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17920623", "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": 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}, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "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 Dicer C-terminus functions as a 5-lipoxygenase binding domain.", "journal": "Biochim. Biophys. Acta", "date": "2009", "authors": "Dincbas-Renqvist V, Pepin G, Rakonjac M, Plante I, Ouellet DL, Hermansson A, Goulet I, Doucet J, Samuelsson B, Radmark O, Provost P", "reference": { "type": "PubMed", "id": "19022417", "url": "https://pubmed.ncbi.nlm.nih.gov/19022417" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UPY3-1", "protein_name": "Endoribonuclease Dicer", "gene_name": "DICER1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09917-1", "protein_name": "Polyunsaturated fatty acid 5-lipoxygenase", "gene_name": "ALOX5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UPY3", "url": "https://www.uniprot.org/uniprotkb/Q9UPY3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 103, "end_pos": 103, "sequence_org": "W", "sequence_mut": "A", "comment": "Abolishes binding to COTL1. Impairs interaction with DICER; when associated with A-14 and A-76.", "evidence": [ { "database": "UniProtKB", "id": "P09917", "url": "https://www.uniprot.org/uniprotkb/P09917" }, { "database": "PubMed", "id": "19022417", "url": "https://pubmed.ncbi.nlm.nih.gov/19022417" }, { "database": "PubMed", "id": "19807693", "url": "https://pubmed.ncbi.nlm.nih.gov/19807693" } ], "uniprot_canonical_ac": "P09917-1" }, { "start_pos": 14, "end_pos": 14, "sequence_org": "W", "sequence_mut": "A", "comment": "Impairs interaction with DICER1; when associated with A-76 and A-103.", "evidence": [ { "database": "UniProtKB", "id": "P09917", "url": "https://www.uniprot.org/uniprotkb/P09917" }, { "database": "PubMed", "id": "19022417", "url": "https://pubmed.ncbi.nlm.nih.gov/19022417" } ], "uniprot_canonical_ac": "P09917-1" }, { "start_pos": 76, "end_pos": 76, "sequence_org": "W", "sequence_mut": "A", "comment": "Impairs interaction with DICER1; when associated with A-14 and A-103.", "evidence": [ { "database": "UniProtKB", "id": "P09917", "url": "https://www.uniprot.org/uniprotkb/P09917" }, { "database": "PubMed", "id": "19022417", "url": "https://pubmed.ncbi.nlm.nih.gov/19022417" } ], "uniprot_canonical_ac": "P09917-1" } ], "record_id": "pubmed.19022417", "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": [] } ] } ]