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Genet.", "date": "1993", "authors": "Flomen R H, Green E P, Green P M, Bentley D R, Giannelli F", "reference": { "type": "PubMed", "id": "8490623", "url": "https://pubmed.ncbi.nlm.nih.gov/8490623" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22304-1", "protein_name": "Iduronate 2-sulfatase", "gene_name": "IDS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22304", "url": "https://www.uniprot.org/uniprotkb/P22304" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8490623", "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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genetics", "date": "2012", "authors": "Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM", "reference": { "type": "PubMed", "id": "22503633", "url": "https://pubmed.ncbi.nlm.nih.gov/22503633" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96RY7-1", "protein_name": "Intraflagellar transport protein 140 homolog", "gene_name": "IFT140", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96RY7", "url": "https://www.uniprot.org/uniprotkb/Q96RY7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22503633", "abstract": "", "glycosylation": 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AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanovic R, Peco-Antic A, Mache C, Hurles ME, Joksic I, Guc-Scekic M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C", "reference": { "type": "PubMed", "id": "23418020", "url": "https://pubmed.ncbi.nlm.nih.gov/23418020" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96RY7-1", "protein_name": "Intraflagellar transport protein 140 homolog", "gene_name": "IFT140", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96RY7", "url": "https://www.uniprot.org/uniprotkb/Q96RY7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23418020", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], 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"count": 0 }, { "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": 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J. Hum. Genet.", "date": "2019", "authors": "Liu W, He X, Yang S, Zouari R, Wang J, Wu H, Kherraf ZE, Liu C, Coutton C, Zhao R, Tang D, Tang S, Lv M, Fang Y, Li W, Li H, Zhao J, Wang X, Zhao S, Zhang J, Arnoult C, Jin L, Zhang Z, Ray PF, Cao Y, Zhang F", "reference": { "type": "PubMed", "id": "30929735", "url": "https://pubmed.ncbi.nlm.nih.gov/30929735" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96RY7-1", "protein_name": "Intraflagellar transport protein 140 homolog", "gene_name": "IFT140", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NDW8-1", "protein_name": "Tetratricopeptide repeat protein 21A", "gene_name": "TTC21A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y366-1", "protein_name": "Intraflagellar transport protein 52 homolog", "gene_name": "IFT52", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8C0S4-1", "protein_name": "Tetratricopeptide repeat protein 21A", "gene_name": "Ttc21a", "tax_name": "Mouse" }, { 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Genet.", "date": "2022", "authors": "Jamsheer A., Schmidts M., Oud M.M., Latos-Bielenska A., Krawczynski M.R., Bongers E.M.H.F., Sowinska-Seidler A., Obersztyn E., Walczak-Sztulpa J., Wawrocka A., Bukowska-Olech E., Doornbos C., Grenda R., van Beek R.", "reference": { "type": "PubMed", "id": "35873489", "url": "https://pubmed.ncbi.nlm.nih.gov/35873489" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96RY7-1", "protein_name": "Intraflagellar transport protein 140 homolog", "gene_name": "IFT140", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96RY7", "url": "https://www.uniprot.org/uniprotkb/Q96RY7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35873489", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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IFT140 are associated with polycystic kidney disease.", "journal": "American journal of medical genetics. 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Cell Sci.", "date": "2013", "authors": "Dumax-Vorzet A, Roboti P, High S", "reference": { "type": "PubMed", "id": "23606741", "url": "https://pubmed.ncbi.nlm.nih.gov/23606741" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P46977-1", "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A", "gene_name": "STT3A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0C6T2-1", "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4", "gene_name": "OST4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39656-1", "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit", "gene_name": "DDOST", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TCJ2-1", "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B", "gene_name": "STT3B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04844-1", "protein_name": 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"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 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"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": "De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.", "journal": "American journal of human genetics", "date": "2018", "authors": "Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, 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Immunol.", "date": "1992", "authors": "Dahl C A, Schall R P, He H L, Cairns J S", "reference": { "type": "PubMed", "id": "1729377", "url": "https://pubmed.ncbi.nlm.nih.gov/1729377" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P24001-1", "protein_name": "Interleukin-32", "gene_name": "IL32", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P24001", "url": "https://www.uniprot.org/uniprotkb/P24001" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1729377", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "IL32 downregulation lowers triglycerides and type I collagen in di-lineage human primary liver organoids.", "journal": "Cell reports. 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sufficient to abrogate T-cell development and cause severe combined immunodeficiency.", "journal": "Blood", "date": "2000", "authors": "Roifman CM, Zhang J, Chitayat D, Sharfe N", "reference": { "type": "PubMed", "id": "11023514", "url": "https://pubmed.ncbi.nlm.nih.gov/11023514" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P16871-1", "protein_name": "Interleukin-7 receptor subunit alpha", "gene_name": "IL7R", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P16871", "url": "https://www.uniprot.org/uniprotkb/P16871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11023514", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": 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