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0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.", "journal": "Human mutation", "date": "2003", "authors": "Westphal V, Xiao M, Kwok PY, Freeze HH", "reference": { "type": "PubMed", "id": "14517965", "url": "https://pubmed.ncbi.nlm.nih.gov/14517965" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y672", "url": "https://www.uniprot.org/uniprotkb/Q9Y672" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14517965", 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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_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": "Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic).", "journal": "Molecular genetics and metabolism", "date": "2011-05", "authors": "Miller Bradley S, Freeze Hudson H, Hoffmann Georg F, Sarafoglou Kyriakie", "reference": { "type": "PubMed", "id": "21334936", "url": "https://pubmed.ncbi.nlm.nih.gov/21334936" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y672", "url": "https://www.uniprot.org/uniprotkb/Q9Y672" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs35383149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35383149" }, { "id": "rs35383149", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35383149" }, { "id": "rs35383149", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35383149" }, { "id": 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delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31." }, "synonyms": [ { "id": "DOID:0080555", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080555", "name": "congenital disorder of glycosylation 1c", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "ALG6-congenital disorder of glycosylation 1C", "description": "A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3)." }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "ALG6 congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "ALG6-CDG (CDG-Ic)", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "ALG6-CDG1C", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "ALG6-congenital disorder of glycosylation 1C", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011291", "name": "CDG syndrome type Ic", "description": "" }, { "id": "MONDO:0011291", "resource": "MONDO", "url": 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Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA", "reference": { "type": "PubMed", "id": "27287710", "url": "https://pubmed.ncbi.nlm.nih.gov/27287710" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y672-1", "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y672", "url": "https://www.uniprot.org/uniprotkb/Q9Y672" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27287710", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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Early transcriptional regulation by retinoic acid.", "journal": "J. Biol. 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Neurol.", "date": "2001", "authors": "Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garc\u00eda R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown R H", "reference": { "type": "PubMed", "id": "11198284", "url": "https://pubmed.ncbi.nlm.nih.gov/11198284" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75923-1", "protein_name": "Dysferlin", "gene_name": "DYSF", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75923", "url": "https://www.uniprot.org/uniprotkb/O75923" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11198284", "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", 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K, Nishino I, Angelini C, Hayashi YK", "reference": { "type": "PubMed", "id": "15469449", "url": "https://pubmed.ncbi.nlm.nih.gov/15469449" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75923-1", "protein_name": "Dysferlin", "gene_name": "DYSF", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75923", "url": "https://www.uniprot.org/uniprotkb/O75923" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15469449", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], 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Genet.", "date": "2006", "authors": "Pramono Zacharias Aloysius Dwi, Lai Poh San, Tan Chin Lai, Takeda Shin'ichi, Yee Woon Chee", "reference": { "type": "PubMed", "id": "16896923", "url": "https://pubmed.ncbi.nlm.nih.gov/16896923" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75923-1", "protein_name": "Dysferlin", "gene_name": "DYSF", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75923", "url": "https://www.uniprot.org/uniprotkb/O75923" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16896923", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { 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