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"uniprot_canonical_ac": "P30301-1", "protein_name": "Lens fiber major intrinsic protein", "gene_name": "MIP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14520", "url": "https://www.uniprot.org/uniprotkb/O14520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11027599", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "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", 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"n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Differential expression of aquaporin 8 in human colonic epithelial cells and colorectal tumors.", "journal": "BMC physiology", "date": "2001", "authors": "Fischer H, Stenling R, Rubio C, Lindblom A", "reference": { "type": "PubMed", "id": "11231887", "url": "https://pubmed.ncbi.nlm.nih.gov/11231887" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14520-1", "protein_name": "Aquaporin-7", "gene_name": "AQP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94778-1", "protein_name": "Aquaporin-8", "gene_name": "AQP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41181-1", "protein_name": "Aquaporin-2", "gene_name": "AQP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13520-1", "protein_name": "Aquaporin-6", "gene_name": "AQP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55064-1", "protein_name": "Aquaporin-5", "gene_name": "AQP5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXF9-1", "protein_name": "Putative aquaporin-12A", "gene_name": "AQP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96PS8-1", "protein_name": "Aquaporin-10", "gene_name": "AQP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43315-1", "protein_name": "Aquaporin-9", "gene_name": "AQP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55087-1", "protein_name": "Aquaporin-4", "gene_name": "AQP4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NBQ7-1", "protein_name": "Aquaporin-11", "gene_name": "AQP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92482-1", "protein_name": "Aquaporin-3", "gene_name": "AQP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29972-1", "protein_name": "Aquaporin-1", "gene_name": "AQP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30301-1", "protein_name": "Lens fiber major intrinsic 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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_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A refined structure of human aquaporin-1.", "journal": "FEBS letters", "date": "2001", "authors": "de Groot BL, Engel A, Grubmuller H", "reference": { "type": "PubMed", "id": "11532455", "url": "https://pubmed.ncbi.nlm.nih.gov/11532455" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14520-1", "protein_name": "Aquaporin-7", "gene_name": "AQP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94778-1", "protein_name": "Aquaporin-8", "gene_name": "AQP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41181-1", "protein_name": "Aquaporin-2", "gene_name": "AQP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13520-1", "protein_name": "Aquaporin-6", "gene_name": "AQP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55064-1", "protein_name": "Aquaporin-5", "gene_name": "AQP5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXF9-1", "protein_name": "Putative aquaporin-12A", "gene_name": "AQP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96PS8-1", "protein_name": "Aquaporin-10", "gene_name": "AQP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43315-1", "protein_name": "Aquaporin-9", "gene_name": "AQP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55087-1", "protein_name": "Aquaporin-4", "gene_name": "AQP4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NBQ7-1", "protein_name": "Aquaporin-11", "gene_name": "AQP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92482-1", "protein_name": "Aquaporin-3", "gene_name": "AQP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29972-1", "protein_name": "Aquaporin-1", "gene_name": "AQP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30301-1", "protein_name": "Lens fiber major intrinsic protein", "gene_name": "MIP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14520", "url": "https://www.uniprot.org/uniprotkb/O14520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11532455", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "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": 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"n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cloning of a new aquaporin (AQP10) abundantly expressed in duodenum and jejunum.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Hatakeyama S, Yoshida Y, Tani T, Koyama Y, Nihei K, Ohshiro K, Kamiie JI, Yaoita E, Suda T, Hatakeyama K, Yamamoto T", "reference": { "type": "PubMed", "id": "11573934", "url": "https://pubmed.ncbi.nlm.nih.gov/11573934" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14520-1", "protein_name": "Aquaporin-7", "gene_name": "AQP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94778-1", "protein_name": "Aquaporin-8", "gene_name": "AQP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41181-1", "protein_name": "Aquaporin-2", "gene_name": "AQP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13520-1", "protein_name": "Aquaporin-6", "gene_name": "AQP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55064-1", "protein_name": "Aquaporin-5", "gene_name": "AQP5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXF9-1", "protein_name": "Putative aquaporin-12A", "gene_name": "AQP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96PS8-1", "protein_name": "Aquaporin-10", "gene_name": "AQP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43315-1", "protein_name": "Aquaporin-9", "gene_name": "AQP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55087-1", "protein_name": "Aquaporin-4", "gene_name": "AQP4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NBQ7-1", "protein_name": "Aquaporin-11", "gene_name": "AQP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92482-1", "protein_name": "Aquaporin-3", "gene_name": "AQP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29972-1", "protein_name": "Aquaporin-1", "gene_name": "AQP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30301-1", "protein_name": "Lens fiber major intrinsic protein", "gene_name": "MIP", "tax_name": "Human" } ], "species": [ { "name": "Homo 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation.", "journal": "European journal of biochemistry", "date": "2002", "authors": "Kondo H, Shimomura I, Kishida K, Kuriyama H, Makino Y, Nishizawa H, Matsuda M, Maeda N, Nagaretani H, Kihara S, Kurachi Y, Nakamura T, Funahashi T, Matsuzawa Y", "reference": { "type": "PubMed", "id": "11952783", "url": "https://pubmed.ncbi.nlm.nih.gov/11952783" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14520-1", "protein_name": "Aquaporin-7", "gene_name": "AQP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94778-1", "protein_name": "Aquaporin-8", "gene_name": "AQP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41181-1", "protein_name": "Aquaporin-2", "gene_name": "AQP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13520-1", "protein_name": "Aquaporin-6", "gene_name": "AQP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55064-1", "protein_name": "Aquaporin-5", "gene_name": "AQP5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXF9-1", "protein_name": "Putative aquaporin-12A", "gene_name": "AQP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96PS8-1", "protein_name": "Aquaporin-10", "gene_name": "AQP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43315-1", "protein_name": "Aquaporin-9", "gene_name": "AQP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55087-1", "protein_name": "Aquaporin-4", "gene_name": "AQP4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NBQ7-1", "protein_name": "Aquaporin-11", "gene_name": "AQP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92482-1", "protein_name": "Aquaporin-3", "gene_name": "AQP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29972-1", "protein_name": "Aquaporin-1", "gene_name": "AQP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30301-1", "protein_name": "Lens fiber major intrinsic protein", "gene_name": "MIP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14520", "url": "https://www.uniprot.org/uniprotkb/O14520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11952783", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "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": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cloning and identification of a new member of water channel (AQP10) as an aquaglyceroporin.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Ishibashi K, Morinaga T, Kuwahara M, Sasaki S, Imai M", "reference": { "type": "PubMed", "id": "12084581", "url": "https://pubmed.ncbi.nlm.nih.gov/12084581" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14520-1", "protein_name": "Aquaporin-7", "gene_name": "AQP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94778-1", "protein_name": "Aquaporin-8", "gene_name": "AQP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41181-1", "protein_name": "Aquaporin-2", "gene_name": "AQP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13520-1", "protein_name": "Aquaporin-6", "gene_name": "AQP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55064-1", "protein_name": "Aquaporin-5", "gene_name": "AQP5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXF9-1", "protein_name": "Putative aquaporin-12A", "gene_name": "AQP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96PS8-1", "protein_name": "Aquaporin-10", "gene_name": "AQP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43315-1", "protein_name": "Aquaporin-9", "gene_name": "AQP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55087-1", "protein_name": "Aquaporin-4", "gene_name": "AQP4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NBQ7-1", "protein_name": "Aquaporin-11", "gene_name": "AQP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92482-1", "protein_name": "Aquaporin-3", "gene_name": "AQP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29972-1", "protein_name": "Aquaporin-1", "gene_name": "AQP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30301-1", "protein_name": "Lens fiber major intrinsic protein", "gene_name": "MIP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": 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"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": "Purification and functional characterization of aquaporin-8.", "journal": "Biology of the cell", "date": "2006", "authors": "Liu K, Nagase H, Huang CG, Calamita G, Agre P", "reference": { "type": "PubMed", "id": "15948717", "url": "https://pubmed.ncbi.nlm.nih.gov/15948717" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14520-1", "protein_name": "Aquaporin-7", "gene_name": "AQP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94778-1", "protein_name": "Aquaporin-8", "gene_name": "AQP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41181-1", "protein_name": "Aquaporin-2", "gene_name": "AQP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13520-1", "protein_name": "Aquaporin-6", "gene_name": "AQP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55064-1", "protein_name": "Aquaporin-5", "gene_name": "AQP5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXF9-1", "protein_name": "Putative aquaporin-12A", "gene_name": "AQP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96PS8-1", "protein_name": "Aquaporin-10", "gene_name": "AQP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43315-1", "protein_name": "Aquaporin-9", "gene_name": "AQP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55087-1", "protein_name": "Aquaporin-4", "gene_name": "AQP4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NBQ7-1", "protein_name": "Aquaporin-11", "gene_name": "AQP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92482-1", "protein_name": "Aquaporin-3", "gene_name": "AQP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P56404-1", "protein_name": "Aquaporin-8", "gene_name": "Aqp8", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P56405-1", "protein_name": "Aquaporin-8", "gene_name": "Aqp8", "tax_name": "Rat" }, { "uniprot_canonical_ac": "P29972-1", "protein_name": "Aquaporin-1", "gene_name": "AQP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30301-1", "protein_name": "Lens fiber major intrinsic protein", "gene_name": "MIP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14520", "url": "https://www.uniprot.org/uniprotkb/O14520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15948717", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 15 } ], "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": 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"count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "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": 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"uniprot_canonical_ac": "P30301-1", "protein_name": "Lens fiber major intrinsic protein", "gene_name": "MIP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14520", "url": "https://www.uniprot.org/uniprotkb/O14520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18555844", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "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", 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Gastrointestinal and liver physiology", "date": "2009", "authors": "Larocca MC, Soria LR, Espelt MV, Lehmann GL, Marinelli RA", "reference": { "type": "PubMed", "id": "18948439", "url": "https://pubmed.ncbi.nlm.nih.gov/18948439" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14520-1", "protein_name": "Aquaporin-7", "gene_name": "AQP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94778-1", "protein_name": "Aquaporin-8", "gene_name": "AQP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41181-1", "protein_name": "Aquaporin-2", "gene_name": "AQP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13520-1", "protein_name": "Aquaporin-6", "gene_name": "AQP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55064-1", "protein_name": "Aquaporin-5", "gene_name": "AQP5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXF9-1", "protein_name": "Putative aquaporin-12A", "gene_name": "AQP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": 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Hepato Pancreato Biliary Association", "date": "2009", "authors": "Padma S, Smeltz AM, Banks PM, Iannitti DA, McKillop IH", "reference": { "type": "PubMed", "id": "19590626", "url": "https://pubmed.ncbi.nlm.nih.gov/19590626" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14520-1", "protein_name": "Aquaporin-7", "gene_name": "AQP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94778-1", "protein_name": "Aquaporin-8", "gene_name": "AQP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41181-1", "protein_name": "Aquaporin-2", "gene_name": "AQP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13520-1", "protein_name": "Aquaporin-6", "gene_name": "AQP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55064-1", "protein_name": "Aquaporin-5", "gene_name": "AQP5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXF9-1", "protein_name": "Putative aquaporin-12A", "gene_name": "AQP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": 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Thornton JM, Pellegrini-Calace M", "reference": { "type": "PubMed", "id": "20147624", "url": "https://pubmed.ncbi.nlm.nih.gov/20147624" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14520-1", "protein_name": "Aquaporin-7", "gene_name": "AQP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94778-1", "protein_name": "Aquaporin-8", "gene_name": "AQP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41181-1", "protein_name": "Aquaporin-2", "gene_name": "AQP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13520-1", "protein_name": "Aquaporin-6", "gene_name": "AQP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55064-1", "protein_name": "Aquaporin-5", "gene_name": "AQP5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXF9-1", "protein_name": "Putative aquaporin-12A", "gene_name": "AQP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96PS8-1", "protein_name": "Aquaporin-10", "gene_name": "AQP10", "tax_name": "Human" }, { 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Molecular characterization and chromosomal localization.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Lee MD, Bhakta KY, Raina S, Yonescu R, Griffin CA, Copeland NG, Gilbert DJ, Jenkins NA, Preston GM, Agre P", "reference": { "type": "PubMed", "id": "8621489", "url": "https://pubmed.ncbi.nlm.nih.gov/8621489" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14520-1", "protein_name": "Aquaporin-7", "gene_name": "AQP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94778-1", "protein_name": "Aquaporin-8", "gene_name": "AQP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41181-1", "protein_name": "Aquaporin-2", "gene_name": "AQP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13520-1", "protein_name": "Aquaporin-6", "gene_name": "AQP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55064-1", "protein_name": "Aquaporin-5", "gene_name": "AQP5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXF9-1", "protein_name": "Putative aquaporin-12A", "gene_name": "AQP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96PS8-1", "protein_name": "Aquaporin-10", "gene_name": "AQP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43315-1", "protein_name": "Aquaporin-9", "gene_name": "AQP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55087-1", "protein_name": "Aquaporin-4", "gene_name": "AQP4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NBQ7-1", "protein_name": "Aquaporin-11", "gene_name": "AQP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92482-1", "protein_name": "Aquaporin-3", "gene_name": "AQP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P47864-1", "protein_name": "Aquaporin-5", "gene_name": "Aqp5", "tax_name": "Rat" }, { "uniprot_canonical_ac": "P29972-1", "protein_name": "Aquaporin-1", "gene_name": "AQP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30301-1", "protein_name": "Lens fiber major intrinsic protein", "gene_name": "MIP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14520", "url": "https://www.uniprot.org/uniprotkb/O14520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8621489", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 14 } ], "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 }, { 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"n_linked_glycan_sites", "count": 0 }, { "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": "cDNA cloning and gene structure of a novel water channel expressed exclusively in human kidney: evidence for a gene cluster of aquaporins at chromosome locus 12q13.", "journal": "Genomics", "date": "1996", "authors": "Ma T, Yang B, Kuo WL, Verkman AS", "reference": { "type": "PubMed", "id": "8812490", "url": "https://pubmed.ncbi.nlm.nih.gov/8812490" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14520-1", "protein_name": "Aquaporin-7", "gene_name": "AQP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94778-1", "protein_name": "Aquaporin-8", "gene_name": "AQP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41181-1", "protein_name": "Aquaporin-2", "gene_name": "AQP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13520-1", "protein_name": "Aquaporin-6", "gene_name": "AQP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55064-1", "protein_name": "Aquaporin-5", "gene_name": "AQP5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXF9-1", "protein_name": "Putative aquaporin-12A", "gene_name": "AQP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96PS8-1", "protein_name": "Aquaporin-10", "gene_name": "AQP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43315-1", "protein_name": "Aquaporin-9", "gene_name": "AQP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55087-1", "protein_name": "Aquaporin-4", "gene_name": "AQP4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NBQ7-1", "protein_name": "Aquaporin-11", "gene_name": "AQP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92482-1", "protein_name": "Aquaporin-3", "gene_name": "AQP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29972-1", "protein_name": "Aquaporin-1", "gene_name": "AQP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30301-1", "protein_name": "Lens fiber major intrinsic protein", "gene_name": "MIP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14520", "url": "https://www.uniprot.org/uniprotkb/O14520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8812490", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "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 expression of a novel human aquaporin from adipose tissue with glycerol permeability.", "journal": "Biochemical and biophysical research communications", "date": "1997", "authors": "Kuriyama H, Kawamoto S, Ishida N, Ohno I, Mita S, Matsuzawa Y, Matsubara K, Okubo K", "reference": { "type": "PubMed", "id": "9405233", "url": "https://pubmed.ncbi.nlm.nih.gov/9405233" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14520-1", "protein_name": "Aquaporin-7", "gene_name": "AQP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94778-1", "protein_name": "Aquaporin-8", "gene_name": "AQP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41181-1", "protein_name": "Aquaporin-2", "gene_name": "AQP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13520-1", "protein_name": "Aquaporin-6", "gene_name": "AQP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55064-1", "protein_name": "Aquaporin-5", "gene_name": "AQP5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IXF9-1", "protein_name": "Putative aquaporin-12A", "gene_name": "AQP12A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96PS8-1", "protein_name": "Aquaporin-10", "gene_name": "AQP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43315-1", "protein_name": "Aquaporin-9", "gene_name": "AQP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55087-1", "protein_name": "Aquaporin-4", "gene_name": "AQP4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NBQ7-1", "protein_name": "Aquaporin-11", "gene_name": "AQP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92482-1", "protein_name": "Aquaporin-3", "gene_name": "AQP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29972-1", "protein_name": "Aquaporin-1", "gene_name": "AQP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30301-1", "protein_name": "Lens fiber major intrinsic protein", "gene_name": "MIP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14520", "url": "https://www.uniprot.org/uniprotkb/O14520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9405233", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "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": 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cloning and functional expression of human aquaporin8 cDNA and analysis of its gene.", "journal": "Genomics", "date": "1998", "authors": "Koyama N, Ishibashi K, Kuwahara M, Inase N, Ichioka M, Sasaki S, Marumo F", "reference": { "type": "PubMed", "id": "9806845", "url": "https://pubmed.ncbi.nlm.nih.gov/9806845" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O14520-1", "protein_name": "Aquaporin-7", "gene_name": "AQP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "O94778-1", "protein_name": "Aquaporin-8", "gene_name": "AQP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "P41181-1", "protein_name": "Aquaporin-2", "gene_name": "AQP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13520-1", "protein_name": "Aquaporin-6", "gene_name": "AQP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55064-1", "protein_name": "Aquaporin-5", "gene_name": 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"Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14520", "url": "https://www.uniprot.org/uniprotkb/O14520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9806845", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 13 } ], "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": 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"date": "2022-11-13", "authors": "Becker Aur\u00e9lie, Felici Charlotte, Lambert La\u00ebtitia, de Saint Martin Anne, Abi-Warde Marie-Th\u00e9r\u00e8se, Schaefer Elise, Zix Christian, Zamani Mina, Sadeghian Saeid, Zeighami Jawaher, Seifi Tahereh, Azizimalamiri Reza, Shariati Gholamreza, Galehdari Hamid, Selig Mareike, Ding Can, Duerinckx Sarah, Pirson Isabelle, Abramowicz Marc, Cl\u00e9ment Guillemette, Leheup Bruno, Jonveaux Philippe, Lefort Genevi\u00e8ve, Bronner Myriam, Renaud Mathilde, Bonnet C\u00e9line", "reference": { "type": "PubMed", "id": "36371792", "url": "https://pubmed.ncbi.nlm.nih.gov/36371792" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00189-1", "protein_name": "AP-4 complex subunit mu-1", "gene_name": "AP4M1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00189", "url": "https://www.uniprot.org/uniprotkb/O00189" } ], "common_name": "Human", 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journal of gene medicine", "date": "2023-09-27", "authors": "Akbar Warda, Ullah Asmat, Haider Nighat, Suleman Sufyan, Khan Fati Ullah, Shah Abid Ali, Sikandar Muhammad Atif, Basit Sulman, Ahmad Wasim", "reference": { "type": "PubMed", "id": "37758467", "url": "https://pubmed.ncbi.nlm.nih.gov/37758467" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00189-1", "protein_name": "AP-4 complex subunit mu-1", "gene_name": "AP4M1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13461-1", "protein_name": "Forkhead box protein E3", "gene_name": "FOXE3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00189", "url": "https://www.uniprot.org/uniprotkb/O00189" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37758467", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], 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Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-CDG", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG syndrome type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG-Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG1G", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDGIg", 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Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-CDG", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG syndrome type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG-Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG1G", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDGIg", 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"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:0080559", "recommended_name": { "id": "DOID:0080559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080559", "name": "congenital disorder of glycosylation Ig", "description": "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13." }, "synonyms": [ { "id": "DOID:0080559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080559", "name": "ALG12-congenital disorder of glycosylation", "description": "" }, { "id": "DOID:0080559", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080559", "name": "congenital disorder of glycosylation 1g", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-congenital disorder of glycosylation", "description": "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-CDG", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG syndrome type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG-Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG1G", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDGIg", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "carbohydrate deficient glycoprotein syndrome type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "congenital disorder of glycosylation type 1g", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "congenital disorder of glycosylation type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "mannosyltransferase 8 deficiency", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-CDG (CDG-Ig)", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG 1G", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "congenital disorder of glycosylation, type Ig", "description": "" }, { "id": "MIM:607143", "resource": "MIM", "url": "https://www.omim.org/entry/607143", "name": "Congenital disorder of glycosylation 1G", "description": "Congenital disorder of glycosylation 1G" } ], "unlinked_id_list": [], "evidence": [ { "id": "0011783", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783" }, { "id": "607143", "database": "MIM", "url": "https://www.omim.org/entry/607143" }, { "id": "ALG12", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ALG12/#!details" }, { "id": "79087", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/79087#disease" }, { "id": "0080559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080559" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000000000010000.00000000001000.000000000001000000.01001.11.010.001", "uniprot_canonical_ac": "Q9BV10-1" }, { "evidence": [ { "id": "Q9BV10", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BV10" }, { "id": "rs121907932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907932" }, { "id": "rs121907932", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907932" }, { "id": "rs121907932", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121907932#frequency_tab" }, { "id": "rs121907932", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121907932" }, { "id": "12217961", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12217961" }, { "id": "17506107", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17506107" } ], "glycoeffect": [], "start_pos": 146, "end_pos": 146, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "22", "chr_pos": "49910466", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R146", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", 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The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-CDG", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "ALG12-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG syndrome type Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG-Ig", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDG1G", "description": "" }, { "id": "MONDO:0011783", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011783", "name": "CDGIg", 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{ "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": "FLRG, member of the follistatin family, a new player in hematopoiesis.", "journal": "Molecular and cellular endocrinology", "date": "2004-10-15", "authors": "Maguer-Satta V\u00e9ronique, Rimokh Ruth", "reference": { "type": "PubMed", "id": "15451575", "url": "https://pubmed.ncbi.nlm.nih.gov/15451575" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O95633-1", "protein_name": "Follistatin-related protein 3", "gene_name": "FSTL3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", 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