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SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure." }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "SMAX2", "description": "" }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "X-linked distal arthrogryposis multiplex congenita", "description": "" }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "X-linked spinal muscular atrophy type 2", "description": "" }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "spinal muscular atrophy with arthrogryposis", "description": "" }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "spinal muscular atrophy, X-linked 2, infantile, X-linked recessive", "description": "" }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "spinal muscular atrophy, X-linked type 2", "description": "" }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "spinal muscular atrophy, X-linked 2", "description": "" }, { "id": "MIM:301830", "resource": "MIM", "url": "https://www.omim.org/entry/301830", "name": "Spinal muscular atrophy X-linked 2", "description": "Spinal muscular atrophy X-linked 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "301830", "database": "MIM", "url": "https://www.omim.org/entry/301830" }, { "id": "0111827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111827" } ] }, { "disease_id": "DOID:0080828", "recommended_name": { "id": "DOID:0080828", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080828", "name": "VEXAS syndrome", "description": "A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11." }, "synonyms": [ { "id": "DOID:0080828", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080828", "name": "vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome", "description": "" }, { "id": "MONDO:0026777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026777", "name": "VEXAS syndrome", "description": "An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. 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SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure." }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "SMAX2", "description": "" }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "X-linked distal arthrogryposis multiplex congenita", "description": "" }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "X-linked spinal muscular atrophy type 2", "description": "" }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "spinal muscular atrophy with arthrogryposis", "description": "" }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "spinal muscular atrophy, X-linked 2, infantile, X-linked recessive", "description": "" }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "spinal muscular atrophy, X-linked type 2", "description": "" }, { "id": "MONDO:0010532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010532", "name": "spinal muscular atrophy, X-linked 2", "description": "" }, { "id": "MIM:301830", "resource": "MIM", "url": "https://www.omim.org/entry/301830", "name": "Spinal muscular atrophy X-linked 2", "description": "Spinal muscular atrophy X-linked 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "301830", "database": "MIM", "url": "https://www.omim.org/entry/301830" }, { "id": "0111827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111827" } ] }, { "disease_id": "DOID:0080828", "recommended_name": { "id": "DOID:0080828", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080828", "name": "VEXAS syndrome", "description": "A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11." }, "synonyms": [ { "id": "DOID:0080828", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080828", "name": "vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome", "description": "" }, { "id": "MONDO:0026777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026777", "name": "VEXAS syndrome", "description": "An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. 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The condition does not respond to rheumatologic medications and the features may result in premature death." }, { "id": "MONDO:0026777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026777", "name": "VEXAS", "description": "" }, { "id": "MONDO:0026777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026777", "name": "VEXAS syndrome, somatic", "description": "" }, { "id": "MONDO:0026777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026777", "name": "vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome", "description": "" }, { "id": "MIM:301054", "resource": "MIM", "url": "https://www.omim.org/entry/301054", "name": "VEXAS syndrome", "description": "VEXAS syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "301054", "database": "MIM", "url": "https://www.omim.org/entry/301054" }, { "id": "0080828", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080828" } ] 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Genet.", "date": "2010", "authors": "Kumar Arun, Duvvari Maheswara R, Prabhakaran Venkatesh C, Shetty Jyoti S, Murthy Gowri J, Blanton Susan H", "reference": { "type": "PubMed", "id": "20617341", "url": "https://pubmed.ncbi.nlm.nih.gov/20617341" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q14767-1", "protein_name": "Latent-transforming growth factor beta-binding protein 2", "gene_name": "LTBP2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14767", "url": "https://www.uniprot.org/uniprotkb/Q14767" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20617341", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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pyrophosphatase/phosphodiesterase family.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Sakagami H, Aoki J, Natori Y, Nishikawa K, Kakehi Y, Natori Y, Arai H", "reference": { "type": "PubMed", "id": "15788404", "url": "https://pubmed.ncbi.nlm.nih.gov/15788404" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UWR7-1", "protein_name": "Glycerophosphocholine cholinephosphodiesterase ENPP6", "gene_name": "ENPP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZV29-1", "protein_name": "Patatin-like phospholipase domain-containing protein 7", "gene_name": "PNPLA7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WTR4-1", "protein_name": "Glycerophosphodiester phosphodiesterase 2", "gene_name": "GDPD5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8BGN3-1", "protein_name": "Glycerophosphocholine cholinephosphodiesterase ENPP6", "gene_name": "Enpp6", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9NZC3-1", "protein_name": "Glycerophosphodiester phosphodiesterase 1", "gene_name": "GDE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IY17-4", "protein_name": "Patatin-like phospholipase domain-containing protein 6", "gene_name": "PNPLA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7L5L3-2", "protein_name": "Lysophospholipase D GDPD3", "gene_name": "GDPD3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N9F7-1", "protein_name": "Lysophospholipase D GDPD1", "gene_name": "GDPD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UWR7", "url": "https://www.uniprot.org/uniprotkb/Q6UWR7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15788404", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Genomic organization, characterization, and molecular 3D model of GDE1, a novel mammalian glycerophosphoinositol phosphodiesterase.", "journal": "Gene", "date": "2006", "authors": "Bachmann AS, Duennebier FF, Mocz G", "reference": { "type": "PubMed", "id": "16472945", "url": "https://pubmed.ncbi.nlm.nih.gov/16472945" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UWR7-1", "protein_name": 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"protein_name": "Lysophospholipase D GDPD1", "gene_name": "GDPD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UWR7", "url": "https://www.uniprot.org/uniprotkb/Q6UWR7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16472945", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 8 } ], "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": "Characterization of the human patatin-like phospholipase family.", "journal": "Journal of lipid research", "date": "2006", "authors": "Wilson PA, Gardner SD, Lambie NM, Commans SA, Crowther DJ", "reference": { "type": "PubMed", "id": "16799181", "url": "https://pubmed.ncbi.nlm.nih.gov/16799181" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UWR7-1", "protein_name": "Glycerophosphocholine cholinephosphodiesterase ENPP6", "gene_name": "ENPP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZV29-1", "protein_name": "Patatin-like phospholipase domain-containing protein 7", "gene_name": "PNPLA7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WTR4-1", "protein_name": "Glycerophosphodiester phosphodiesterase 2", "gene_name": "GDPD5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZC3-1", "protein_name": "Glycerophosphodiester phosphodiesterase 1", "gene_name": "GDE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7Z6Z6-1", "protein_name": "Patatin-like phospholipase domain-containing protein 5", "gene_name": "PNPLA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IY17-4", "protein_name": "Patatin-like phospholipase domain-containing protein 6", "gene_name": "PNPLA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N8W4-1", "protein_name": "Omega-hydroxyceramide transacylase", "gene_name": "PNPLA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7L5L3-2", "protein_name": "Lysophospholipase D GDPD3", "gene_name": "GDPD3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N9F7-1", "protein_name": "Lysophospholipase D GDPD1", "gene_name": "GDPD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UWR7", "url": "https://www.uniprot.org/uniprotkb/Q6UWR7" } ], "common_name": 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"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": "Neuropathy target esterase catalyzes osmoprotective renal synthesis of glycerophosphocholine in response to high NaCl.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Gallazzini M, Ferraris JD, Kunin M, Morris RG, Burg MB", "reference": { "type": "PubMed", "id": "17015841", "url": "https://pubmed.ncbi.nlm.nih.gov/17015841" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UWR7-1", "protein_name": "Glycerophosphocholine cholinephosphodiesterase ENPP6", "gene_name": "ENPP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZV29-1", "protein_name": "Patatin-like phospholipase domain-containing protein 7", "gene_name": "PNPLA7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WTR4-1", "protein_name": "Glycerophosphodiester phosphodiesterase 2", "gene_name": "GDPD5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZC3-1", "protein_name": "Glycerophosphodiester phosphodiesterase 1", "gene_name": "GDE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IY17-4", "protein_name": "Patatin-like phospholipase domain-containing protein 6", "gene_name": "PNPLA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7L5L3-2", "protein_name": "Lysophospholipase D GDPD3", "gene_name": "GDPD3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8N9F7-1", "protein_name": "Lysophospholipase D GDPD1", "gene_name": "GDPD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UWR7", "url": "https://www.uniprot.org/uniprotkb/Q6UWR7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17015841", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 7 } ], "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": 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J. Cancer", "date": "2006", "authors": "Groene Joern, Mansmann Ulrich, Meister Reinhard, Staub Eike, Roepcke Stefan, Heinze Maya, Klaman Irina, Br\u00fcmmendorf Thomas, Hermann Klaus, Loddenkemper Christoph, Pilarsky Christian, Mann Benno, Adams Hans-Peter, Buhr Heinz Johannes, Rosenthal Andr\u00e9", "reference": { "type": "PubMed", "id": "16721809", "url": "https://pubmed.ncbi.nlm.nih.gov/16721809" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IYD1-1", "protein_name": "Eukaryotic peptide chain release factor GTP-binding subunit ERF3B", "gene_name": "GSPT2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYD1", "url": "https://www.uniprot.org/uniprotkb/Q8IYD1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16721809", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.", "journal": "PloS one", "date": "2017", "authors": "Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, Henderson A, Lalani SR, Scott DA", "reference": { "type": "PubMed", "id": "28414775", "url": "https://pubmed.ncbi.nlm.nih.gov/28414775" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IYD1-1", "protein_name": "Eukaryotic peptide chain release factor GTP-binding subunit ERF3B", "gene_name": "GSPT2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYD1", "url": "https://www.uniprot.org/uniprotkb/Q8IYD1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28414775", "abstract": "", "glycosylation": [], "mutagenesis": [], 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