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Genet.", "date": "2017", "authors": "Bramswig NC, Caluseriu O, Ludecke HJ, Bolduc FV, Noel NC, Wieland T, Surowy HM, Christen HJ, Engels H, Strom TM, Wieczorek D", "reference": { "type": "PubMed", "id": "28124119", "url": "https://pubmed.ncbi.nlm.nih.gov/28124119" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q68CP9-1", "protein_name": "AT-rich interactive domain-containing protein 2", "gene_name": "ARID2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BZR9-1", "protein_name": "E3 ubiquitin-protein ligase TRIM8", "gene_name": "TRIM8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q68CP9", "url": "https://www.uniprot.org/uniprotkb/Q68CP9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28124119", "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": "Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.", "journal": "Am. 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Part A", "date": "2024-01-19", "authors": "Schrier Vergano Samantha A", "reference": { "type": "PubMed", "id": "38243407", "url": "https://pubmed.ncbi.nlm.nih.gov/38243407" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q68CP9-1", "protein_name": "AT-rich interactive domain-containing protein 2", "gene_name": "ARID2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q68CP9", "url": "https://www.uniprot.org/uniprotkb/Q68CP9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38243407", "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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Nawaz S, Zubair M, Khan K, Ma H, Shi Q", "reference": { "type": "PubMed", "id": "34493464", "url": "https://pubmed.ncbi.nlm.nih.gov/34493464" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NEN0-1", "protein_name": "Armadillo repeat-containing protein 2", "gene_name": "ARMC2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NEN0", "url": "https://www.uniprot.org/uniprotkb/Q8NEN0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34493464", "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": 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"authors": "Hamadou WS, Besbes S, Mani R, Bourdon V, Ben Youssef Y, Achour B, Regaieg H, Eisinger F, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Khelif A, Sobol H, Soua Z", "reference": { "type": "PubMed", "id": "27866680", "url": "https://pubmed.ncbi.nlm.nih.gov/27866680" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q969Q4-1", "protein_name": "ADP-ribosylation factor-like protein 11", "gene_name": "ARL11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969Q4", "url": "https://www.uniprot.org/uniprotkb/Q969Q4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27866680", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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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": "Case report: a novel ARMC5 germline mutation in a patient with primary bilateral macronodular adrenal hyperplasia and hypogammaglobulinemia.", "journal": "Front. Genet.", "date": "2022", "authors": "Vena Walter, Morelli Valentina, Carrabba Maria, Elli Francesca, Fabio Giovanna, Muller Ilaria, Lucca Camilla, Maffini Maria Antonia, Lania Andrea Gerardo, Mantovani Giovanna, Arosio Maura", "reference": { "type": "PubMed", "id": "35368666", "url": "https://pubmed.ncbi.nlm.nih.gov/35368666" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96C12-1", "protein_name": "Armadillo repeat-containing protein 5", "gene_name": "ARMC5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96C12", "url": "https://www.uniprot.org/uniprotkb/Q96C12" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35368666", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { 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Disord.", "date": "2022", "authors": "Wang Wei, Wei Feng", "reference": { "type": "PubMed", "id": "35996143", "url": "https://pubmed.ncbi.nlm.nih.gov/35996143" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96C12-1", "protein_name": "Armadillo repeat-containing protein 5", "gene_name": "ARMC5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96C12", "url": "https://www.uniprot.org/uniprotkb/Q96C12" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35996143", "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", 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regulated by androgen in prostate cancer cells.", "journal": "Endocrinology", "date": "2003", "authors": "Qi H, Fournier A, Grenier J, Fillion C, Labrie Y, Labrie C", "reference": { "type": "PubMed", "id": "12697679", "url": "https://pubmed.ncbi.nlm.nih.gov/12697679" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96DR7-1", "protein_name": "Rho guanine nucleotide exchange factor 26", "gene_name": "ARHGEF26", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DR7", "url": "https://www.uniprot.org/uniprotkb/Q96DR7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12697679", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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Assist. Reprod. Genet.", "date": "2002", "authors": "Miyamoto Toshinobu, Hasuike Shiga, Jinno Yoshihiro, Soejima Hidenobu, Yun Kankatsu, Miura Kiyonori, Ishikawa Mutsuo, Niikawa Norio", "reference": { "type": "PubMed", "id": "12099555", "url": "https://pubmed.ncbi.nlm.nih.gov/12099555" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99929-1", "protein_name": "Achaete-scute homolog 2", "gene_name": "ASCL2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99929", "url": "https://www.uniprot.org/uniprotkb/Q99929" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12099555", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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"Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.", "journal": "Gene", "date": "2013", "authors": "Khan S, Ullah I, Irfanullah, Touseef M, Basit S, Khan MN, Ahmad W", "reference": { "type": "PubMed", "id": "23219996", "url": "https://pubmed.ncbi.nlm.nih.gov/23219996" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H0F7-1", "protein_name": "ADP-ribosylation factor-like protein 6", "gene_name": "ARL6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TAM1-1", "protein_name": "BBSome complex assembly protein BBS10", "gene_name": "BBS10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H0F7", "url": "https://www.uniprot.org/uniprotkb/Q9H0F7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23219996", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": 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"count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "High prevalence of Bardet-Biedl syndrome in La Reunion Island is due to a founder variant in ARL6/BBS3.", "journal": "Clinical genetics", "date": "2020", "authors": "Gouronc A, Zilliox V, Jacquemont ML, Darcel F, Leuvrey AS, Nourisson E, Antin M, Alessandri JL, Doray B, Gueguen P, Payet F, Randrianaivo H, Stoetzel C, Scheidecker S, Flodrops H, Dollfus H, Muller J", "reference": { "type": "PubMed", "id": "32361989", "url": "https://pubmed.ncbi.nlm.nih.gov/32361989" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9H0F7-1", "protein_name": "ADP-ribosylation factor-like protein 6", "gene_name": "ARL6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H0F7", "url": "https://www.uniprot.org/uniprotkb/Q9H0F7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32361989", "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", 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Biol.", "date": "2001", "authors": "Yoshida S, Ohbo K, Takakura A, Takebayashi H, Okada T, Abe K, Nabeshima Y", "reference": { "type": "PubMed", "id": "11784080", "url": "https://pubmed.ncbi.nlm.nih.gov/11784080" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NQ33-1", "protein_name": "Achaete-scute homolog 3", "gene_name": "ASCL3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9JJR7-1", "protein_name": "Achaete-scute homolog 3", "gene_name": "Ascl3", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NQ33", "url": "https://www.uniprot.org/uniprotkb/Q9NQ33" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11784080", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { 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U.S.A.", "date": "2000", "authors": "Nakamura T, Blechman J, Tada S, Rozovskaia T, Itoyama T, Bullrich F, Mazo A, Croce CM, Geiger B, Canaani E", "reference": { "type": "PubMed", "id": "10860993", "url": "https://pubmed.ncbi.nlm.nih.gov/10860993" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NR48-1", "protein_name": "Histone-lysine N-methyltransferase ASH1L", "gene_name": "ASH1L", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NR48", "url": "https://www.uniprot.org/uniprotkb/Q9NR48" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10860993", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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Part A", "date": "2017", "authors": "Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K", "reference": { "type": "PubMed", "id": "28394464", "url": "https://pubmed.ncbi.nlm.nih.gov/28394464" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NR48-1", "protein_name": "Histone-lysine N-methyltransferase ASH1L", "gene_name": "ASH1L", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NR48", "url": "https://www.uniprot.org/uniprotkb/Q9NR48" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28394464", "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", 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