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41", "gene_name": "TAS2R41", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYV9-1", "protein_name": "Taste receptor type 2 member 13", "gene_name": "TAS2R13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW3-1", "protein_name": "Taste receptor type 2 member 7", "gene_name": "TAS2R7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW5-1", "protein_name": "Taste receptor type 2 member 4", "gene_name": "TAS2R4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW6-1", "protein_name": "Taste receptor type 2 member 3", "gene_name": "TAS2R3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW7-1", "protein_name": "Taste receptor type 2 member 1", "gene_name": "TAS2R1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13255-1", "protein_name": "Metabotropic glutamate receptor 1", "gene_name": "GRM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TE23-1", "protein_name": "Taste receptor type 1 member 2", "gene_name": "TAS1R2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16520-1", "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3", "gene_name": "GNB3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IU99-1", "protein_name": "Calcium homeostasis modulator protein 1", "gene_name": "CALHM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P59541-1", "protein_name": "Taste receptor type 2 member 30", "gene_name": "TAS2R30", "tax_name": "Human" }, { "uniprot_canonical_ac": "P59543-1", "protein_name": "Taste receptor type 2 member 20", "gene_name": "TAS2R20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P59534-1", "protein_name": "Taste receptor type 2 member 39", "gene_name": "TAS2R39", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYV8-1", "protein_name": "Taste receptor type 2 member 14", "gene_name": "TAS2R14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TD43-1", "protein_name": "Transient receptor potential cation channel subfamily M member 4", "gene_name": "TRPM4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7RTX1-1", "protein_name": "Taste receptor type 1 member 1", "gene_name": "TAS1R1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZQ8-1", "protein_name": "Transient receptor potential cation channel subfamily M member 5", "gene_name": "TRPM5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14833-1", "protein_name": "Metabotropic glutamate receptor 4", "gene_name": "GRM4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14573-1", "protein_name": "Inositol 1,4,5-trisphosphate-gated calcium channel ITPR3", "gene_name": "ITPR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYV7-1", "protein_name": "Taste receptor type 2 member 16", "gene_name": "TAS2R16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW0-1", "protein_name": "Taste receptor type 2 member 10", "gene_name": "TAS2R10", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW2-1", "protein_name": "Taste receptor type 2 member 8", "gene_name": "TAS2R8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW4-1", "protein_name": "Taste receptor type 2 member 5", "gene_name": "TAS2R5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P59540-1", "protein_name": "Taste receptor type 2 member 46", "gene_name": "TAS2R46", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7RTX0-1", "protein_name": "Taste receptor type 1 member 3", "gene_name": "TAS1R3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07699", "url": "https://www.uniprot.org/uniprotkb/Q07699" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7720699", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 41 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", 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], "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 and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B).", "journal": "Genomics", "date": "1994", "authors": "Makita N, Sloan-Brown K, Weghuis DO, Ropers HH, George AL Jr", "reference": { "type": "PubMed", "id": "7851891", "url": "https://pubmed.ncbi.nlm.nih.gov/7851891" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07699-1", "protein_name": "Sodium channel regulatory subunit beta-1", "gene_name": "SCN1B", 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"count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly.", "journal": "Neuropharmacology", "date": "1993", "authors": "Brust PF, Simerson S, McCue AF, Deal CR, Schoonmaker S, Williams ME, Velicelebi G, Johnson EC, Harpold MM, Ellis SB", "reference": { "type": "PubMed", "id": "8107964", "url": "https://pubmed.ncbi.nlm.nih.gov/8107964" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07699-1", "protein_name": "Sodium channel regulatory subunit beta-1", "gene_name": "SCN1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15858-1", "protein_name": "Sodium channel protein type 9 subunit alpha", "gene_name": "SCN9A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01118-1", "protein_name": "Sodium channel protein type 7 subunit alpha", "gene_name": "SCN7A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60939-1", "protein_name": "Sodium channel regulatory subunit beta-2", "gene_name": "SCN2B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35499-1", "protein_name": "Sodium channel protein type 4 subunit alpha", "gene_name": "SCN4A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NY46-1", "protein_name": "Sodium channel protein type 3 subunit alpha", "gene_name": "SCN3A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99250-1", "protein_name": "Sodium channel protein type 2 subunit alpha", "gene_name": "SCN2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UI33-1", "protein_name": "Sodium channel protein type 11 subunit alpha", "gene_name": "SCN11A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQD0-1", "protein_name": "Sodium channel protein type 8 subunit alpha", "gene_name": "SCN8A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IWT1-1", "protein_name": "Sodium channel regulatory subunit beta-4", "gene_name": "SCN4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y5Y9-1", "protein_name": "Sodium channel protein type 10 subunit alpha", "gene_name": "SCN10A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NY72-1", "protein_name": "Sodium channel regulatory subunit beta-3", "gene_name": "SCN3B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13554-1", "protein_name": "Calcium/calmodulin-dependent protein kinase type II subunit beta", "gene_name": "CAMK2B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQM7-1", "protein_name": "Calcium/calmodulin-dependent protein kinase type II subunit alpha", "gene_name": "CAMK2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P54289-1", "protein_name": "Voltage-dependent calcium channel subunit alpha-2/delta-1", "gene_name": "CACNA2D1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02641-1", "protein_name": "Voltage-dependent L-type calcium channel subunit beta-1", "gene_name": "CACNB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NY47-1", "protein_name": "Voltage-dependent calcium channel subunit alpha-2/delta-2", "gene_name": "CACNA2D2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P35498-1", "protein_name": "Sodium channel protein type 1 subunit alpha", "gene_name": "SCN1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DP23-1", "protein_name": "Calmodulin-1", "gene_name": "CALM1; CALM2; CALM3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q08289-1", "protein_name": "Voltage-dependent L-type calcium channel subunit beta-2", "gene_name": "CACNB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBN1-1", "protein_name": "Voltage-dependent calcium channel gamma-4 subunit", "gene_name": "CACNG4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXT2-1", "protein_name": "Voltage-dependent calcium channel gamma-6 subunit", "gene_name": "CACNG6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92915-1", "protein_name": "Fibroblast growth factor 14", "gene_name": "FGF14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14524-1", "protein_name": "Sodium channel protein type 5 subunit alpha", "gene_name": "SCN5A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61328-1", "protein_name": "Fibroblast growth factor 12", "gene_name": "FGF12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92913-1", "protein_name": "Fibroblast growth factor 13", "gene_name": "FGF13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92914-1", "protein_name": "Fibroblast growth factor 11", "gene_name": "FGF11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13557-1", "protein_name": "Calcium/calmodulin-dependent protein kinase type II subunit delta", "gene_name": "CAMK2D", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13936-1", "protein_name": "Voltage-dependent L-type calcium channel subunit alpha-1C", "gene_name": "CACNA1C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13555-1", "protein_name": "Calcium/calmodulin-dependent protein kinase type II subunit gamma", "gene_name": "CAMK2G", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62955-1", "protein_name": "Voltage-dependent calcium channel gamma-7 subunit", "gene_name": "CACNG7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WXS5-1", "protein_name": "Voltage-dependent calcium channel gamma-8 subunit", "gene_name": "CACNG8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HD47-1", "protein_name": "Ran guanine nucleotide release factor", "gene_name": "RANGRF", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07699", "url": "https://www.uniprot.org/uniprotkb/Q07699" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8107964", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 33 } ], 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"uniprot_canonical_ac": "Q9NY46-1", "protein_name": "Sodium channel protein type 3 subunit alpha", "gene_name": "SCN3A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99250-1", "protein_name": "Sodium channel protein type 2 subunit alpha", "gene_name": "SCN2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IWT1-1", "protein_name": "Sodium channel regulatory subunit beta-4", "gene_name": "SCN4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62873-1", "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1", "gene_name": "GNB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8MTJ3-1", "protein_name": "Guanine nucleotide-binding protein G(t) subunit alpha-3", "gene_name": "GNAT3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2W3-1", "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13", "gene_name": "GNG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86XJ0-1", "protein_name": "Calcium homeostasis 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41", "gene_name": "TAS2R41", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYV9-1", "protein_name": "Taste receptor type 2 member 13", "gene_name": "TAS2R13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW3-1", "protein_name": "Taste receptor type 2 member 7", "gene_name": "TAS2R7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW5-1", "protein_name": "Taste receptor type 2 member 4", "gene_name": "TAS2R4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW6-1", "protein_name": "Taste receptor type 2 member 3", "gene_name": "TAS2R3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW7-1", "protein_name": "Taste receptor type 2 member 1", "gene_name": "TAS2R1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13255-1", "protein_name": "Metabotropic glutamate receptor 1", "gene_name": "GRM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TE23-1", "protein_name": "Taste receptor type 1 member 2", "gene_name": "TAS1R2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16520-1", "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3", "gene_name": "GNB3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IU99-1", "protein_name": "Calcium homeostasis modulator protein 1", "gene_name": "CALHM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P59541-1", "protein_name": "Taste receptor type 2 member 30", "gene_name": "TAS2R30", "tax_name": "Human" }, { "uniprot_canonical_ac": "P59543-1", "protein_name": "Taste receptor type 2 member 20", "gene_name": "TAS2R20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P59534-1", "protein_name": "Taste receptor type 2 member 39", "gene_name": "TAS2R39", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYV8-1", "protein_name": "Taste receptor type 2 member 14", "gene_name": "TAS2R14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TD43-1", "protein_name": "Transient receptor potential cation channel subfamily M member 4", "gene_name": "TRPM4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7RTX1-1", "protein_name": "Taste receptor type 1 member 1", "gene_name": "TAS1R1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NZQ8-1", "protein_name": "Transient receptor potential cation channel subfamily M member 5", "gene_name": "TRPM5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14833-1", "protein_name": "Metabotropic glutamate receptor 4", "gene_name": "GRM4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14573-1", "protein_name": "Inositol 1,4,5-trisphosphate-gated calcium channel ITPR3", "gene_name": "ITPR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYV7-1", "protein_name": "Taste receptor type 2 member 16", "gene_name": "TAS2R16", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW0-1", "protein_name": "Taste receptor type 2 member 10", "gene_name": "TAS2R10", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW2-1", "protein_name": "Taste receptor type 2 member 8", "gene_name": "TAS2R8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NYW4-1", "protein_name": "Taste receptor type 2 member 5", "gene_name": "TAS2R5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P59540-1", "protein_name": "Taste receptor type 2 member 46", "gene_name": "TAS2R46", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7RTX0-1", "protein_name": "Taste receptor type 1 member 3", "gene_name": "TAS1R3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q07699", "url": "https://www.uniprot.org/uniprotkb/Q07699" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8288584", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 41 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", 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], "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": "The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain.", "journal": "Human molecular genetics", "date": "1993", "authors": "McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF", "reference": { "type": "PubMed", "id": "8394762", "url": "https://pubmed.ncbi.nlm.nih.gov/8394762" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07699-1", "protein_name": "Sodium channel regulatory subunit beta-1", "gene_name": "SCN1B", "tax_name": "Human" } ], 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Ca2+ differentially regulates the ligand-affinity states of type 1 and type 3 inositol 1,4,5-trisphosphate receptors.", "journal": "The Biochemical journal", "date": "1997", "authors": "Yoneshima H, Miyawaki A, Michikawa T, Furuichi T, Mikoshiba K", "reference": { "type": "PubMed", "id": "9065781", "url": "https://pubmed.ncbi.nlm.nih.gov/9065781" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q07699-1", "protein_name": "Sodium channel regulatory subunit beta-1", "gene_name": "SCN1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15858-1", "protein_name": "Sodium channel protein type 9 subunit alpha", "gene_name": "SCN9A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60939-1", "protein_name": "Sodium channel regulatory subunit beta-2", "gene_name": "SCN2B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9NY46-1", "protein_name": "Sodium channel protein type 3 subunit alpha", "gene_name": "SCN3A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99250-1", "protein_name": "Sodium channel protein type 2 subunit alpha", "gene_name": "SCN2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IWT1-1", "protein_name": "Sodium channel regulatory subunit beta-4", "gene_name": "SCN4B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62873-1", "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1", "gene_name": "GNB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8MTJ3-1", "protein_name": "Guanine nucleotide-binding protein G(t) subunit alpha-3", "gene_name": "GNAT3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P2W3-1", "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13", "gene_name": "GNG13", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86XJ0-1", "protein_name": "Calcium homeostasis modulator protein 3", "gene_name": "CALHM3", "tax_name": "Human" }, { "uniprot_canonical_ac": 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Chem.", "date": "2019", "authors": "Gonzales Junior, Demetrio de Souza Franca Paula, Jiang Yan, Pirovano Giacomo, Kossatz Susanne, Guru Navjot, Yarilin Dimitry, Agwa Akello J, Schroeder Christina I, Patel Snehal G, Ganly Ian, King Glenn F, Reiner Thomas", "reference": { "type": "PubMed", "id": "31647222", "url": "https://pubmed.ncbi.nlm.nih.gov/31647222" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15858-1", "protein_name": "Sodium channel protein type 9 subunit alpha", "gene_name": "SCN9A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q62205-1", "protein_name": "Sodium channel protein type 9 subunit alpha", "gene_name": "Scn9a", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15858", "url": "https://www.uniprot.org/uniprotkb/Q15858" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31647222", 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Chem.", "date": "1997", "authors": "Sangameswaran L, Fish L M, Koch B D, Rabert D K, Delgado S G, Ilnicka M, Jakeman L B, Novakovic S, Wong K, Sze P, Tzoumaka E, Stewart G R, Herman R C, Chan H, Eglen R M, Hunter J C", "reference": { "type": "PubMed", "id": "9169448", "url": "https://pubmed.ncbi.nlm.nih.gov/9169448" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15858-1", "protein_name": "Sodium channel protein type 9 subunit alpha", "gene_name": "SCN9A", "tax_name": "Human" }, { "uniprot_canonical_ac": "O08562-1", "protein_name": "Sodium channel protein type 9 subunit alpha", "gene_name": "Scn9a", "tax_name": "Rat" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15858", "url": "https://www.uniprot.org/uniprotkb/Q15858" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9169448", "abstract": "", "glycosylation": [], 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syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3Mc syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "COLEC11 3MC syndrome", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "Carnevale syndrome", "description": "" }, { "id": "MIM:265050", "resource": "MIM", "url": "https://www.omim.org/entry/265050", "name": "3MC syndrome 2", "description": "3MC syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "265050", "database": "MIM", "url": "https://www.omim.org/entry/265050" }, { "id": "0060576", "database": "AGR", "url": 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around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.", "journal": "Clinical genetics", "date": "1999", "authors": "Megarbane A, Haddad FA, Haddad-Zebouni S, Achram M, Eich G, Le Merrer M, Superti-Furga A", "reference": { "type": "PubMed", "id": "10466420", "url": "https://pubmed.ncbi.nlm.nih.gov/10466420" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs104893921", "database": "dbSNP", "url": 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[] }, { "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 characterization of SLC26A6, a novel member of the solute carrier 26 gene family.", "journal": "Genomics", "date": "2001", "authors": "Waldegger S, Moschen I, Ramirez A, Smith RJ, Ayadi H, Lang F, Kubisch C", "reference": { "type": "PubMed", "id": "11247665", "url": "https://pubmed.ncbi.nlm.nih.gov/11247665" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2B4-1", "protein_name": "Sulfate anion transporter 1", "gene_name": "SLC26A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P40879-1", "protein_name": "Chloride anion exchanger", "gene_name": "SLC26A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXS9-1", "protein_name": "Solute carrier family 26 member 6", "gene_name": "SLC26A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LBE3-1", "protein_name": "Solute carrier family 26 member 9", "gene_name": "SLC26A9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TE54-1", "protein_name": 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"name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:0060576", "recommended_name": { "id": "DOID:0060576", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060576", "name": "3MC syndrome 2", "description": "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25." }, "synonyms": [ { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome caused by mutation in COLEC11", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3Mc syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "COLEC11 3MC syndrome", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "Carnevale syndrome", "description": "" }, { "id": "MIM:265050", "resource": "MIM", "url": "https://www.omim.org/entry/265050", "name": "3MC syndrome 2", "description": "3MC syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "265050", "database": "MIM", "url": "https://www.omim.org/entry/265050" }, { "id": "0060576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060576" } ] }, { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P50443-1" } ], "record_id": "pubmed.11303514", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.", "journal": "Human molecular genetics", "date": "2001", "authors": "Karniski LP", "reference": { "type": "PubMed", "id": "11448940", "url": "https://pubmed.ncbi.nlm.nih.gov/11448940" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11448940", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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"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 mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.", "journal": "American journal of human genetics", "date": "2001", "authors": "Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perala M, Carter L, Spector TD, Kolodziej L, Seppanen U, Glazar R, Krolewski J, Latos-Bielenska A, Ala-Kokko L", "reference": { "type": 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"11565064", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11565064" }, { "id": "15316973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15316973" }, { "id": "29024831", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29024831" }, { "id": "8571951", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8571951" }, { "id": "8931695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8931695" } ], "glycoeffect": [], "start_pos": 279, "end_pos": 279, "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/transporter).", "chr_id": "5", "chr_pos": "149980428", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R279", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:0060576", "recommended_name": { "id": "DOID:0060576", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060576", "name": "3MC syndrome 2", "description": "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25." }, "synonyms": [ { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome caused by mutation in COLEC11", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3Mc syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "COLEC11 3MC syndrome", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "Carnevale syndrome", "description": "" }, { "id": "MIM:265050", "resource": "MIM", "url": "https://www.omim.org/entry/265050", "name": "3MC syndrome 2", "description": "3MC syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "265050", "database": "MIM", "url": "https://www.omim.org/entry/265050" }, { "id": "0060576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060576" } ] }, { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Molecular cloning of SLC26A7, a novel member of the SLC26 sulfate/anion transporter family, from high endothelial venules and kidney.", "journal": "Genomics", "date": "2002", "authors": "Vincourt JB, Jullien D, Kossida S, Amalric F, Girard JP", "reference": { "type": "PubMed", "id": "11829495", "url": "https://pubmed.ncbi.nlm.nih.gov/11829495" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2B4-1", "protein_name": "Sulfate anion transporter 1", "gene_name": "SLC26A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P40879-1", "protein_name": "Chloride anion exchanger", "gene_name": "SLC26A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXS9-1", "protein_name": "Solute carrier family 26 member 6", "gene_name": "SLC26A6", "tax_name": "Human" }, { 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"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 and functional characterization of SLC26A11, a sodium-independent sulfate transporter from high endothelial venules.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2003", "authors": "Vincourt JB, Jullien D, Amalric F, Girard JP", "reference": { "type": "PubMed", "id": "12626430", "url": "https://pubmed.ncbi.nlm.nih.gov/12626430" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H1N7-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 2", "gene_name": "SLC35B3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2B4-1", "protein_name": "Sulfate anion transporter 1", "gene_name": "SLC26A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P40879-1", "protein_name": "Chloride anion exchanger", "gene_name": "SLC26A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95340-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2", "gene_name": "PAPSS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXS9-1", "protein_name": "Solute carrier family 26 member 6", "gene_name": "SLC26A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LBE3-1", "protein_name": "Solute carrier family 26 member 9", "gene_name": "SLC26A9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TE54-1", "protein_name": "Anion exchange transporter", "gene_name": "SLC26A7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86WA9-1", "protein_name": "Sodium-independent sulfate anion transporter", "gene_name": "SLC26A11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TB61-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1", "gene_name": "SLC35B2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43511-1", "protein_name": "Pendrin", "gene_name": "SLC26A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43252-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "gene_name": "PAPSS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12626430", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 12 } ], "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 sulfate anion transporter (hsat-1) protein and gene (SAT1; SLC26A1).", "journal": "DNA and cell biology", "date": "2003", "authors": "Regeer RR, Lee A, Markovich D", "reference": { "type": "PubMed", "id": "12713736", "url": "https://pubmed.ncbi.nlm.nih.gov/12713736" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H1N7-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 2", "gene_name": "SLC35B3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2B4-1", "protein_name": "Sulfate anion transporter 1", "gene_name": "SLC26A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95340-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2", "gene_name": "PAPSS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86WA9-1", "protein_name": "Sodium-independent sulfate anion transporter", "gene_name": "SLC26A11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TB61-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1", "gene_name": "SLC35B2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43252-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "gene_name": "PAPSS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12713736", "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": "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 identification of 3'-phosphoadenosine 5'-phosphosulfate transporter.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Kamiyama S, Suda T, Ueda R, Suzuki M, Okubo R, Kikuchi N, Chiba Y, Goto S, Toyoda H, Saigo K, Watanabe M, Narimatsu H, Jigami Y, Nishihara S", "reference": { 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"SLC26A11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TB61-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1", "gene_name": "SLC35B2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43252-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "gene_name": "PAPSS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12716889", "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": "The SLC26 gene family of multifunctional anion exchangers.", "journal": "Pflugers Archiv : European journal of physiology", "date": "2004-02", "authors": "Mount David B, Romero Michael F", "reference": { "type": "PubMed", "id": "12759755", "url": "https://pubmed.ncbi.nlm.nih.gov/12759755" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NG04-1", "protein_name": "Putative solute carrier family 26 member 10P", "gene_name": "SLC26A10P", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H1N7-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 2", "gene_name": "SLC35B3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2B4-1", "protein_name": "Sulfate anion transporter 1", "gene_name": "SLC26A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95340-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2", "gene_name": "PAPSS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86WA9-1", "protein_name": "Sodium-independent sulfate anion transporter", "gene_name": "SLC26A11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TB61-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1", "gene_name": "SLC35B2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43252-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "gene_name": "PAPSS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12759755", "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": "Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.", "journal": "American journal of medical genetics. Part A", "date": "2003", "authors": "Makitie O, Savarirayan R, Bonafe L, Robertson S, Susic M, Superti-Furga A, Cole WG", "reference": { "type": "PubMed", "id": "12966518", "url": "https://pubmed.ncbi.nlm.nih.gov/12966518" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs104893924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893924" }, { "id": "rs104893924", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893924" }, { "id": "rs104893924", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs104893924#frequency_tab" }, { "id": "rs104893924", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104893924" }, { "id": "12966518", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12966518" } ], "glycoeffect": [], "start_pos": 653, "end_pos": 653, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "149981550", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C653", "disease": [ { "disease_id": "DOID:0060576", "recommended_name": { "id": "DOID:0060576", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060576", "name": "3MC syndrome 2", "description": "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25." }, "synonyms": [ { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome caused by mutation in COLEC11", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3Mc syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "COLEC11 3MC syndrome", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "Carnevale syndrome", "description": "" }, { "id": "MIM:265050", "resource": "MIM", "url": "https://www.omim.org/entry/265050", "name": "3MC syndrome 2", "description": "3MC syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "265050", "database": "MIM", "url": "https://www.omim.org/entry/265050" }, { "id": "0060576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060576" } ] }, { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000010000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P50443-1" } ], "record_id": "pubmed.12966518", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": 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[] } ] }, { "title": "Mechanism of iodide/chloride exchange by pendrin.", "journal": "Endocrinology", "date": "2004-09", "authors": "Yoshida Akio, Hisatome Ichiro, Taniguchi Shinichi, Sasaki Norihiro, Yamamoto Yasutaka, Miake Junichiro, Fukui Hiroko, Shimizu Hideki, Okamura Tomohisa, Okura Tsuyoshi, Igawa Osamu, Shigemasa Chiaki, Green Eric D, Kohn Leonard D, Suzuki Koichi", "reference": { "type": "PubMed", "id": "15155570", "url": "https://pubmed.ncbi.nlm.nih.gov/15155570" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2B4-1", "protein_name": "Sulfate anion transporter 1", "gene_name": "SLC26A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P40879-1", "protein_name": "Chloride anion exchanger", "gene_name": "SLC26A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXS9-1", "protein_name": "Solute carrier family 26 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"https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P50443-1" }, { "evidence": [ { "id": "P50443", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P50443" }, { "id": "rs104893915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893915" }, { "id": "rs104893915", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs104893915" }, { "id": "rs104893915", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893915" }, { "id": "rs104893915", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs104893915#frequency_tab" }, { "id": "rs104893915", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104893915" }, { "id": "10465113", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10465113" }, { "id": "11303514", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11303514" }, { "id": "11565064", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11565064" }, { "id": "15316973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15316973" }, { "id": "29024831", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29024831" }, { "id": "8571951", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8571951" }, { "id": "8931695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8931695" } ], "glycoeffect": [], "start_pos": 279, "end_pos": 279, "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/transporter).", "chr_id": "5", "chr_pos": "149980428", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R279", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:0060576", "recommended_name": { "id": "DOID:0060576", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060576", "name": "3MC syndrome 2", "description": "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25." }, "synonyms": [ { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome caused by mutation in COLEC11", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3Mc syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "COLEC11 3MC syndrome", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "Carnevale syndrome", "description": "" }, { "id": "MIM:265050", "resource": "MIM", "url": "https://www.omim.org/entry/265050", "name": "3MC syndrome 2", "description": "3MC syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "265050", "database": "MIM", "url": "https://www.omim.org/entry/265050" }, { "id": "0060576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060576" } ] }, { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "SLC26A7 is a Cl- channel regulated by intracellular pH.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Kim KH, Shcheynikov N, Wang Y, Muallem S", "reference": { "type": "PubMed", "id": "15591059", "url": "https://pubmed.ncbi.nlm.nih.gov/15591059" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2B4-1", "protein_name": "Sulfate anion transporter 1", "gene_name": "SLC26A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8R2Z3-1", "protein_name": "Anion exchange transporter", "gene_name": "Slc26a7", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P40879-1", "protein_name": "Chloride anion exchanger", "gene_name": "SLC26A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXS9-1", "protein_name": "Solute carrier family 26 member 6", "gene_name": "SLC26A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LBE3-1", "protein_name": "Solute carrier family 26 member 9", "gene_name": "SLC26A9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TE54-1", "protein_name": "Anion exchange transporter", "gene_name": "SLC26A7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86WA9-1", "protein_name": "Sodium-independent sulfate anion transporter", "gene_name": "SLC26A11", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43511-1", "protein_name": "Pendrin", "gene_name": "SLC26A4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15591059", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ 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"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 characterization of a novel 3'-phosphoadenosine 5'-phosphosulfate transporter, PAPST2.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Kamiyama S, Sasaki N, Goda E, Ui-Tei K, Saigo K, Narimatsu H, Jigami Y, Kannagi R, Irimura T, Nishihara S", "reference": { "type": "PubMed", "id": "16492677", "url": 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"uniprot_canonical_ac": "O43252-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "gene_name": "PAPSS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16492677", "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 }, { 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} ], "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": "SLC26A9 is a Cl(-) channel regulated by the WNK kinases.", "journal": "The Journal of physiology", "date": "2007", "authors": "Dorwart MR, Shcheynikov N, Wang Y, Stippec S, Muallem S", "reference": { "type": "PubMed", "id": "17673510", "url": "https://pubmed.ncbi.nlm.nih.gov/17673510" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2B4-1", "protein_name": "Sulfate anion transporter 1", "gene_name": "SLC26A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9JIH7-1", "protein_name": "Serine/threonine-protein kinase WNK1", "gene_name": "Wnk1", "tax_name": "Rat" }, { "uniprot_canonical_ac": "Q80UE6-1", "protein_name": "Serine/threonine-protein kinase WNK4", "gene_name": "Wnk4", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P40879-1", "protein_name": "Chloride anion exchanger", "gene_name": "SLC26A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXS9-1", "protein_name": "Solute carrier family 26 member 6", "gene_name": "SLC26A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7LBE3-1", "protein_name": "Solute carrier family 26 member 9", "gene_name": "SLC26A9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TE54-1", "protein_name": "Anion exchange transporter", "gene_name": "SLC26A7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86WA9-1", "protein_name": "Sodium-independent sulfate anion transporter", "gene_name": "SLC26A11", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43511-1", "protein_name": "Pendrin", "gene_name": "SLC26A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BYP7-1", "protein_name": "Serine/threonine-protein kinase WNK3", "gene_name": "WNK3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", 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"Journal of medical genetics", "date": "2008-12", "authors": "Bonaf\u00e9 L, H\u00e4stbacka J, de la Chapelle A, Campos-Xavier A B, Chiesa C, Forlino A, Superti-Furga A, Rossi A", "reference": { "type": "PubMed", "id": "18708426", "url": "https://pubmed.ncbi.nlm.nih.gov/18708426" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121908078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908078" }, { "id": "rs121908078", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908078" }, { 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"url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": 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"id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000010000.00000000000000.000000000001000000.00001.10.000.001", "uniprot_canonical_ac": "P50443-1" } ], "record_id": "pubmed.18708426", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.", "journal": "American journal of medical genetics. Part A", "date": "2008-11-15", "authors": "Panzer K M, Lachman R, Modaff P, Pauli R M", "reference": { "type": "PubMed", "id": "18925670", "url": "https://pubmed.ncbi.nlm.nih.gov/18925670" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs267607055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267607055" }, { "id": "rs267607055", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs267607055#frequency_tab" }, { "id": "rs267607055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267607055" }, { "id": "18925670", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18925670" } ], "glycoeffect": [], "start_pos": 133, "end_pos": 133, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "149978050", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A133", "disease": [ { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P50443-1" }, { "evidence": [ { "id": "rs104893919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893919" }, { "id": "rs104893919", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893919" }, { "id": "rs104893919", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs104893919#frequency_tab" }, { "id": "rs104893919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104893919" }, { "id": "15316973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15316973" }, { "id": "18925670", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18925670" }, { "id": "8528239", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8528239" } ], "glycoeffect": [], "start_pos": 178, "end_pos": 178, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "149978184", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R178", "disease": [ { "disease_id": "DOID:0060576", "recommended_name": { "id": "DOID:0060576", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060576", "name": "3MC syndrome 2", "description": "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25." }, "synonyms": [ { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome caused by mutation in COLEC11", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3Mc syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "COLEC11 3MC syndrome", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "Carnevale syndrome", "description": "" }, { "id": "MIM:265050", "resource": "MIM", "url": "https://www.omim.org/entry/265050", "name": "3MC syndrome 2", "description": "3MC syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "265050", "database": "MIM", "url": "https://www.omim.org/entry/265050" }, { "id": "0060576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060576" } ] }, { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P50443-1" } ], "record_id": "pubmed.18925670", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Regulated transport of sulfate and oxalate by SLC26A2/DTDST.", "journal": "American journal of physiology. Cell physiology", "date": "2010-06", "authors": "Heneghan John F, Akhavein Arash, Salas Maria J, Shmukler Boris E, Karniski Lawrence P, Vandorpe David H, Alper Seth L", "reference": { "type": "PubMed", "id": "20219950", "url": "https://pubmed.ncbi.nlm.nih.gov/20219950" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q62273-1", "protein_name": "Sulfate transporter", "gene_name": "Slc26a2", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20219950", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": 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"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": "Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.", "journal": "Human mutation", "date": "2012", "authors": "Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD", "reference": { "type": "PubMed", "id": "21922596", "url": "https://pubmed.ncbi.nlm.nih.gov/21922596" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P49747-1", "protein_name": "Cartilage oligomeric matrix protein", "gene_name": "COMP", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02458-2", "protein_name": "Collagen alpha-1(II) chain", "gene_name": "COL2A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15232-1", "protein_name": "Matrilin-3", "gene_name": "MATN3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "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": 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], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:0060576", "recommended_name": { "id": "DOID:0060576", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060576", "name": "3MC syndrome 2", "description": "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25." }, "synonyms": [ { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": 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"recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": 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"MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", 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[] } ] }, { "title": "The phenotypic variability of diastrophic dysplasia.", "journal": "The Journal of pediatrics", "date": "1978-10", "authors": "Horton W A, Rimoin D L, Lachman R S, Skovby F, Hollister D W, Spranger J, Scott C I, Hall J G", "reference": { "type": "PubMed", "id": "702237", "url": "https://pubmed.ncbi.nlm.nih.gov/702237" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs104893921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893921" }, { "id": "rs104893921", "database": "TOPMed", "url": 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"https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": 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"https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", 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"https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": 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"Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P50443-1" }, { "evidence": [ { "id": "rs121908077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908077" }, { "id": "8528239", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8528239" }, { "id": "9637425", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9637425" } ], "glycoeffect": [], "start_pos": 341, "end_pos": 341, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "149980604TGT", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V341", "disease": [ { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000010.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P50443-1" }, { "evidence": [ { "id": "rs104893920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893920" }, { "id": "rs104893920", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104893920" }, { "id": "8528239", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8528239" } ], "glycoeffect": [], "start_pos": 425, "end_pos": 425, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "149980866", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N425", "disease": [ { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P50443-1" }, { "evidence": [ { "id": "rs386833498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs386833498" }, { "id": "7923357", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7923357" }, { "id": "8528239", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8528239" }, { "id": "8571951", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8571951" } ], "glycoeffect": [], "start_pos": 575, "end_pos": 575, "sequence_org": "K", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "149981317", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K575", "disease": [ { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P50443-1" }, { "evidence": [ { "id": "rs104893916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893916" }, { "id": "rs104893916", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893916" }, { "id": "rs104893916", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs104893916#frequency_tab" }, { "id": "rs104893916", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104893916" }, { "id": "8528239", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8528239" } ], "glycoeffect": [], "start_pos": 678, "end_pos": 678, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "149981626", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G678", "disease": [ { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": 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"https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", 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Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", 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[] } ] }, { "title": "Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.", "journal": "American journal of human genetics", "date": "1996", "authors": "Hastbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES", "reference": { "type": "PubMed", "id": "8571951", "url": "https://pubmed.ncbi.nlm.nih.gov/8571951" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs104893917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893917" }, { "id": "rs104893917", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs104893917#frequency_tab" }, { "id": "rs104893917", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104893917" }, { "id": "8571951", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8571951" } ], "glycoeffect": [], "start_pos": 255, "end_pos": 255, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "149980357", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G255", "disease": [ { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", 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"Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": 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"url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", 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"database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10465113" }, { "id": "11303514", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11303514" }, { "id": "11565064", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11565064" }, { "id": "15316973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15316973" }, { "id": "29024831", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29024831" }, { "id": "8571951", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8571951" }, { "id": "8931695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8931695" } ], "glycoeffect": [], "start_pos": 279, "end_pos": 279, "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/transporter).", "chr_id": "5", "chr_pos": "149980428", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R279", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:0060576", "recommended_name": { "id": "DOID:0060576", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060576", "name": "3MC syndrome 2", "description": "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25." }, "synonyms": [ { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome caused by mutation in COLEC11", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3Mc syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "COLEC11 3MC syndrome", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "Carnevale syndrome", "description": "" }, { "id": "MIM:265050", "resource": "MIM", "url": "https://www.omim.org/entry/265050", "name": "3MC syndrome 2", "description": "3MC syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "265050", "database": "MIM", "url": "https://www.omim.org/entry/265050" }, { "id": "0060576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060576" } ] }, { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P50443-1" }, { "evidence": [ { "id": "rs386833498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs386833498" }, { "id": "7923357", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7923357" }, { "id": "8528239", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8528239" }, { "id": "8571951", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8571951" } ], "glycoeffect": [], "start_pos": 575, "end_pos": 575, "sequence_org": "K", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "149981317", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K575", "disease": [ { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000001000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P50443-1" }, { "evidence": [ { "id": "P50443", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P50443" }, { "id": "rs104893918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893918" }, { "id": "rs104893918", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893918" }, { "id": "rs104893918", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs104893918#frequency_tab" }, { "id": "rs104893918", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104893918" }, { "id": "8571951", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8571951" } ], "glycoeffect": [], "start_pos": 715, "end_pos": 715, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/transporter).", "chr_id": "5", "chr_pos": "149981737", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A715", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P50443-1" } ], "record_id": "pubmed.8571951", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification and partial purification of PAPS translocase.", "journal": "Biochemistry", "date": "1996", "authors": "Ozeran JD, Westley J, Schwartz NB", "reference": { "type": "PubMed", "id": "8619989", "url": "https://pubmed.ncbi.nlm.nih.gov/8619989" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H1N7-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 2", "gene_name": "SLC35B3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2B4-1", "protein_name": "Sulfate anion transporter 1", "gene_name": "SLC26A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95340-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2", "gene_name": "PAPSS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86WA9-1", "protein_name": "Sodium-independent sulfate anion transporter", "gene_name": "SLC26A11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TB61-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1", "gene_name": "SLC35B2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43252-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "gene_name": "PAPSS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8619989", "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", 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"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": "Diastrophic dysplasia: extreme variability within a sibship.", "journal": "American journal of medical genetics", "date": "1996-05-03", "authors": "Hall B D", "reference": { "type": "PubMed", "id": "8723083", "url": "https://pubmed.ncbi.nlm.nih.gov/8723083" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs104893921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893921" }, { "id": "rs104893921", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs104893921#frequency_tab" }, { "id": "rs104893921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104893921" }, { "id": "10466420", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10466420" }, { "id": "12220459", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12220459" }, { "id": "702237", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/702237" }, { "id": "8723083", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8723083" } ], "glycoeffect": [], "start_pos": 454, "end_pos": 454, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "149980954", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q454", "disease": [ { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple 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"https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P50443-1" }, { "evidence": [ { "id": "P50443", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P50443" }, { "id": "rs104893915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893915" }, { "id": "rs104893915", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs104893915" }, { "id": "rs104893915", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893915" }, { "id": "rs104893915", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs104893915#frequency_tab" }, { "id": "rs104893915", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104893915" }, { "id": "10465113", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10465113" }, { "id": "11303514", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11303514" }, { "id": "11565064", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11565064" }, { "id": "15316973", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15316973" }, { "id": "29024831", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/29024831" }, { "id": "8571951", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8571951" }, { "id": "8931695", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8931695" } ], "glycoeffect": [], "start_pos": 279, "end_pos": 279, "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/transporter).", "chr_id": "5", "chr_pos": "149980428", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R279", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] }, { "disease_id": "DOID:0060576", "recommended_name": { "id": "DOID:0060576", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060576", "name": "3MC syndrome 2", "description": "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25." }, "synonyms": [ { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome caused by mutation in COLEC11", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3Mc syndrome type 2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "COLEC11 3MC syndrome", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "3MC2", "description": "" }, { "id": "MONDO:0009927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009927", "name": "Carnevale syndrome", "description": "" }, { "id": "MIM:265050", "resource": "MIM", "url": "https://www.omim.org/entry/265050", "name": "3MC syndrome 2", "description": "3MC syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "265050", "database": "MIM", "url": "https://www.omim.org/entry/265050" }, { "id": "0060576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060576" } ] }, { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P50443-1" } ], "record_id": "pubmed.8931695", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Sulfation in high endothelial venules: cloning and expression of the human PAPS synthetase.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "1998", "authors": "Girard JP, Baekkevold ES, Amalric F", "reference": { "type": "PubMed", "id": "9576487", "url": "https://pubmed.ncbi.nlm.nih.gov/9576487" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H1N7-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 2", "gene_name": "SLC35B3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2B4-1", "protein_name": "Sulfate anion transporter 1", "gene_name": "SLC26A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95340-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2", "gene_name": "PAPSS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86WA9-1", "protein_name": "Sodium-independent sulfate anion transporter", "gene_name": "SLC26A11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TB61-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1", "gene_name": "SLC35B2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43252-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "gene_name": "PAPSS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9576487", "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": "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": "Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.", "journal": "American journal of medical genetics", "date": "1998-06-16", "authors": "Cai G, Nakayama M, Hiraki Y, Ozono K", "reference": { "type": "PubMed", "id": "9637425", "url": "https://pubmed.ncbi.nlm.nih.gov/9637425" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121908077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908077" }, { "id": "8528239", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8528239" }, { "id": "9637425", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9637425" } ], "glycoeffect": [], "start_pos": 341, "end_pos": 341, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "5", "chr_pos": "149980604TGT", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V341", "disease": [ { "disease_id": "DOID:0080055", "recommended_name": { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." }, "synonyms": [ { "id": "DOID:0080055", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080055", "name": "achondrogenesis Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis Ib", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis type IB", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "ACG1B", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "Fraccaro achondrogenesis", "description": "" }, { "id": "MONDO:0010966", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MIM:600972", "resource": "MIM", "url": "https://www.omim.org/entry/600972", "name": "Achondrogenesis 1B", "description": "Achondrogenesis 1B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0010966", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010966" }, { "id": "600972", "database": "MIM", "url": "https://www.omim.org/entry/600972" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ] }, { "disease_id": "DOID:0050648", "recommended_name": { "id": "DOID:0050648", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "synonyms": [ { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type I", "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AO1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "AOI", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis type 1", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "giant cell chondrodysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "spondylo-humero-femoral dysplasia", "description": "" }, { "id": "MONDO:0007167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007167", "name": "atelosteogenesis, type I", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type III", "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AO3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "AOIII", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis type 3", "description": "" }, { "id": "MONDO:0007168", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007168", "name": "atelosteogenesis, type III", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis II", "description": "" }, { "id": "MONDO:0009727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MIM:108720", "resource": "MIM", "url": "https://www.omim.org/entry/108720", "name": "Atelosteogenesis 1", "description": "Atelosteogenesis 1" }, { "id": "MIM:108721", "resource": "MIM", "url": "https://www.omim.org/entry/108721", "name": "Atelosteogenesis 3", "description": "Atelosteogenesis 3" }, { "id": "MIM:256050", "resource": "MIM", "url": "https://www.omim.org/entry/256050", "name": "Atelosteogenesis 2", "description": "Atelosteogenesis 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009727", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009727" }, { "id": "256050", "database": "MIM", "url": "https://www.omim.org/entry/256050" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" }, { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ] }, { "disease_id": "DOID:14687", "recommended_name": { "id": "DOID:14687", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." }, "synonyms": [ { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "diastrophic dysplasia", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DD", "description": "" }, { "id": "MONDO:0009107", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107", "name": "DTD", "description": "" }, { "id": "MIM:222600", "resource": "MIM", "url": "https://www.omim.org/entry/222600", "name": "Diastrophic dysplasia", "description": "Diastrophic dysplasia" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009107", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009107" }, { "id": "222600", "database": "MIM", "url": "https://www.omim.org/entry/222600" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ] }, { "disease_id": "DOID:0070300", "recommended_name": { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32." }, "synonyms": [ { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "EDM4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "MED4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with clubfoot", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "rMED", "description": "" }, { "id": "DOID:0070300", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070300", "name": "multiple epiphyseal dysplasia with bilateral patellae", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia type 4", "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "EDM4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "MED4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Polyepiphyseal dysplasia type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "Recessive Multiple Epiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "SLC26A2 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "autosomal recessive multiple epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, type 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "rMED", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia multiple 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "epiphyseal dysplasia, multiple, 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia 4", "description": "" }, { "id": "MONDO:0009189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189", "name": "multiple epiphyseal dysplasia with double-layered patella", "description": "" }, { "id": "MIM:226900", "resource": "MIM", "url": "https://www.omim.org/entry/226900", "name": "Multiple epiphyseal dysplasia 4", "description": "Multiple epiphyseal dysplasia 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009189", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009189" }, { "id": "226900", "database": "MIM", "url": "https://www.omim.org/entry/226900" }, { "id": "1836", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/1836#disease" }, { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "filter_code": "000000000000000000010.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P50443-1" } ], "record_id": "pubmed.9637425", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Molecular cloning, expression, and characterization of human bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase and its functional domains.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Venkatachalam KV, Akita H, Strott CA", "reference": { "type": "PubMed", "id": "9668121", "url": "https://pubmed.ncbi.nlm.nih.gov/9668121" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H1N7-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 2", "gene_name": "SLC35B3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2B4-1", "protein_name": "Sulfate anion transporter 1", "gene_name": "SLC26A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16881-1", "protein_name": "Thioredoxin reductase 1, cytoplasmic", "gene_name": "TXNRD1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95340-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2", "gene_name": "PAPSS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86WA9-1", "protein_name": "Sodium-independent sulfate anion transporter", "gene_name": "SLC26A11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TB61-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1", "gene_name": "SLC35B2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43252-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "gene_name": "PAPSS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9668121", "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": "Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.", "journal": "Nature genetics", "date": "1998", "authors": "Faiyaz ul Haque M, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH", "reference": { "type": "PubMed", "id": "9771708", "url": "https://pubmed.ncbi.nlm.nih.gov/9771708" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P50443-1", "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H1N7-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 2", "gene_name": "SLC35B3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H2B4-1", "protein_name": "Sulfate anion transporter 1", "gene_name": "SLC26A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95340-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2", "gene_name": "PAPSS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86WA9-1", "protein_name": "Sodium-independent sulfate anion transporter", "gene_name": "SLC26A11", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TB61-1", "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 1", "gene_name": "SLC35B2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43252-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "gene_name": "PAPSS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O88428-1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2", "gene_name": "Papss2", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P50443", "url": "https://www.uniprot.org/uniprotkb/P50443" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121908950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908950" }, { "id": "rs121908950", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs121908950" }, { "id": "9714015", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9714015" }, { "id": "9771708", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/9771708" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 475, "end_pos": 475, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "10", "chr_pos": "87743589", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S475", "disease": [ { "disease_id": "DOID:0050812", "recommended_name": { "id": "DOID:0050812", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050812", "name": "spondyloepimetaphyseal dysplasia, Pakistani type", "description": "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." }, "synonyms": [ { "id": "DOID:0050812", "resource": "Disease Ontology", "url": 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