PubMed:19451548 / 98-238 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/19451548","sourcedb":"PubMed","sourceid":"19451548","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/19451548","text":"We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation.","tracks":[{"project":"sentences","denotations":[{"id":"TextSentencer_T2","span":{"begin":0,"end":140},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":140},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":140},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":15,"end":19},"obj":"gene:79796"},{"id":"T1","span":{"begin":31,"end":68},"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/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"}]},{"project":"GlycoBiology-GDGDB","denotations":[{"id":"_T2","span":{"begin":15,"end":19},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354"},{"id":"_T6","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00621"},{"id":"_T7","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344"},{"id":"_T8","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00345"},{"id":"_T9","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00346"},{"id":"_T10","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00347"},{"id":"_T11","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00348"},{"id":"_T12","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00349"},{"id":"_T13","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00350"},{"id":"_T14","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00351"},{"id":"_T15","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00352"},{"id":"_T16","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00353"},{"id":"_T17","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360"},{"id":"_T18","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00355"},{"id":"_T19","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00356"},{"id":"_T20","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00620"},{"id":"_T21","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343"},{"id":"_T22","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00626"},{"id":"_T23","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00623"},{"id":"_T24","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00624"},{"id":"_T25","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00625"},{"id":"_T26","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358"},{"id":"_T27","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00359"},{"id":"_T28","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00361"},{"id":"_T29","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00362"},{"id":"_T30","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00363"},{"id":"_T31","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00364"},{"id":"_T32","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00365"},{"id":"_T33","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00367"},{"id":"_T34","span":{"begin":31,"end":73},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00622"},{"id":"_T35","span":{"begin":31,"end":76},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00627"},{"id":"_T36","span":{"begin":31,"end":76},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343"},{"id":"_T37","span":{"begin":31,"end":76},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354"}],"attributes":[{"subj":"_T2","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T6","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T7","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T8","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T9","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T10","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T11","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T12","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T13","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T14","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T15","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T16","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T17","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T18","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T19","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T20","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T21","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T22","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T23","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T24","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T25","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T26","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T27","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T28","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T29","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T30","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T31","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T32","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T33","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T34","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T35","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T36","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T37","pred":"source","obj":"GlycoBiology-GDGDB"}]},{"project":"uniprot-human","denotations":[{"id":"T2","span":{"begin":15,"end":19},"obj":"http://www.uniprot.org/uniprot/Q9H6U8"}],"attributes":[{"subj":"T2","pred":"source","obj":"uniprot-human"}]},{"project":"GO-BP","denotations":[{"id":"T1","span":{"begin":55,"end":68},"obj":"http://purl.obolibrary.org/obo/GO_0070085"}],"attributes":[{"subj":"T1","pred":"source","obj":"GO-BP"}]},{"project":"NGLY1-deficiency","denotations":[{"id":"PD-NGLY1-deficiency-B_T8","span":{"begin":31,"end":76},"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/"}],"attributes":[{"subj":"PD-NGLY1-deficiency-B_T8","pred":"source","obj":"NGLY1-deficiency"}]},{"project":"DisGeNET5_variant_disease","denotations":[{"id":"19451548-1#121#129#geners121908023","span":{"begin":121,"end":129},"obj":"geners121908023"},{"id":"19451548-1#112#119#geners121908023","span":{"begin":112,"end":119},"obj":"geners121908023"},{"id":"19451548-1#31#68#diseaseC0282577","span":{"begin":31,"end":68},"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"}],"attributes":[{"subj":"19451548-1#121#129#geners121908023","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"19451548-1#112#119#geners121908023","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"19451548-1#31#68#diseaseC0282577","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"19451548-1#15#19#gene79796","span":{"begin":15,"end":19},"obj":"gene79796"},{"id":"19451548-1#31#68#diseaseC0282577","span":{"begin":31,"end":68},"obj":"diseaseC0282577"}],"relations":[{"id":"15#19#gene7979631#68#diseaseC0282577","pred":"associated_with","subj":"19451548-1#15#19#gene79796","obj":"19451548-1#31#68#diseaseC0282577"}],"attributes":[{"subj":"19451548-1#15#19#gene79796","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"19451548-1#31#68#diseaseC0282577","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"mondo_disease","denotations":[{"id":"T2","span":{"begin":31,"end":76},"obj":"Disease"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0012117"},{"subj":"T2","pred":"source","obj":"mondo_disease"}]},{"project":"NCBITAXON","denotations":[{"id":"T2","span":{"begin":78,"end":85},"obj":"OrganismTaxon"}],"attributes":[{"id":"A2","pred":"db_id","subj":"T2","obj":"9606"},{"subj":"T2","pred":"source","obj":"NCBITAXON"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"sentences","color":"#d193ec","default":true},{"id":"DisGeNET","color":"#93ecb6"},{"id":"GlycoBiology-GDGDB","color":"#ec9c93"},{"id":"uniprot-human","color":"#93a3ec"},{"id":"GO-BP","color":"#bdec93"},{"id":"NGLY1-deficiency","color":"#ec93d7"},{"id":"DisGeNET5_variant_disease","color":"#93ece7"},{"id":"DisGeNET5_gene_disease","color":"#eccd93"},{"id":"mondo_disease","color":"#b393ec"},{"id":"NCBITAXON","color":"#93ec99"}]}]}}