PubMed:19451548 / 0-262 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":97},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":98,"end":238},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":97},"obj":"Sentence"},{"id":"T2","span":{"begin":98,"end":238},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":97},"obj":"Sentence"},{"id":"T2","span":{"begin":98,"end":238},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.\nWe describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation. This patient presented "}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":113,"end":117},"obj":"gene:79796"},{"id":"T1","span":{"begin":129,"end":166},"obj":"disease:C0282577"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.\nWe describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation. This patient presented "}

{"project":"GlycoBiology-GDGDB","denotations":[{"id":"_T1","span":{"begin":65,"end":69},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354"},{"id":"_T2","span":{"begin":113,"end":117},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354"},{"id":"_T4","span":{"begin":81,"end":87},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00627"},{"id":"_T5","span":{"begin":81,"end":87},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354"},{"id":"_T6","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00621"},{"id":"_T7","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344"},{"id":"_T8","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00345"},{"id":"_T9","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00346"},{"id":"_T10","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00347"},{"id":"_T11","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00348"},{"id":"_T12","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00349"},{"id":"_T13","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00350"},{"id":"_T14","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00351"},{"id":"_T15","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00352"},{"id":"_T16","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00353"},{"id":"_T17","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360"},{"id":"_T18","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00355"},{"id":"_T19","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00356"},{"id":"_T20","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00620"},{"id":"_T21","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343"},{"id":"_T22","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00626"},{"id":"_T23","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00623"},{"id":"_T24","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00624"},{"id":"_T25","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00625"},{"id":"_T26","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358"},{"id":"_T27","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00359"},{"id":"_T28","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00361"},{"id":"_T29","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00362"},{"id":"_T30","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00363"},{"id":"_T31","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00364"},{"id":"_T32","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00365"},{"id":"_T33","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00367"},{"id":"_T34","span":{"begin":129,"end":171},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00622"},{"id":"_T35","span":{"begin":129,"end":174},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00627"},{"id":"_T36","span":{"begin":129,"end":174},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343"},{"id":"_T37","span":{"begin":129,"end":174},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354"}],"text":"Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.\nWe describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation. This patient presented "}

{"project":"GlycoBiology-FMA","denotations":[{"id":"_T1","span":{"begin":19,"end":32},"obj":"FMAID:62925"},{"id":"_T2","span":{"begin":19,"end":32},"obj":"FMAID:167256"}],"namespaces":[{"prefix":"FMAID","uri":"http://purl.org/sig/ont/fma/fma"}],"text":"Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.\nWe describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation. This patient presented "}

{"project":"uniprot-human","denotations":[{"id":"T1","span":{"begin":65,"end":69},"obj":"http://www.uniprot.org/uniprot/Q9H6U8"},{"id":"T2","span":{"begin":113,"end":117},"obj":"http://www.uniprot.org/uniprot/Q9H6U8"}],"text":"Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.\nWe describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation. This patient presented "}

{"project":"GO-BP","denotations":[{"id":"T1","span":{"begin":153,"end":166},"obj":"http://purl.obolibrary.org/obo/GO_0070085"}],"text":"Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.\nWe describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation. This patient presented "}

{"project":"NGLY1-deficiency","denotations":[{"id":"PD-NGLY1-deficiency-B_T8","span":{"begin":129,"end":174},"obj":"omim:615273"}],"namespaces":[{"prefix":"hgnc","uri":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:"},{"prefix":"omim","uri":"https://www.omim.org/entry/"},{"prefix":"chem","uri":"https://pubchem.ncbi.nlm.nih.gov/compound/"}],"text":"Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.\nWe describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation. This patient presented "}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"19451548-1#121#129#geners121908023","span":{"begin":219,"end":227},"obj":"geners121908023"},{"id":"19451548-1#112#119#geners121908023","span":{"begin":210,"end":217},"obj":"geners121908023"},{"id":"19451548-1#31#68#diseaseC0282577","span":{"begin":129,"end":166},"obj":"diseaseC0282577"}],"relations":[{"id":"121#129#geners12190802331#68#diseaseC0282577","pred":"associated_with","subj":"19451548-1#121#129#geners121908023","obj":"19451548-1#31#68#diseaseC0282577"},{"id":"112#119#geners12190802331#68#diseaseC0282577","pred":"associated_with","subj":"19451548-1#112#119#geners121908023","obj":"19451548-1#31#68#diseaseC0282577"}],"text":"Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.\nWe describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation. This patient presented "}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"19451548-1#15#19#gene79796","span":{"begin":113,"end":117},"obj":"gene79796"},{"id":"19451548-1#31#68#diseaseC0282577","span":{"begin":129,"end":166},"obj":"diseaseC0282577"}],"relations":[{"id":"15#19#gene7979631#68#diseaseC0282577","pred":"associated_with","subj":"19451548-1#15#19#gene79796","obj":"19451548-1#31#68#diseaseC0282577"}],"text":"Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.\nWe describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation. This patient presented "}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":81,"end":87},"obj":"ORDO:79328"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.\nWe describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation. This patient presented "}

{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":81,"end":87},"obj":"Disease"},{"id":"T2","span":{"begin":129,"end":174},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0012117"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0012117"}],"text":"Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.\nWe describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation. This patient presented "}

{"project":"NCBITAXON","denotations":[{"id":"T1","span":{"begin":89,"end":96},"obj":"OrganismTaxon"},{"id":"T2","span":{"begin":176,"end":183},"obj":"OrganismTaxon"},{"id":"T3","span":{"begin":244,"end":251},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"9606"},{"id":"A2","pred":"db_id","subj":"T2","obj":"9606"},{"id":"A3","pred":"db_id","subj":"T3","obj":"9606"}],"text":"Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.\nWe describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation. This patient presented "}