PubMed:15958417 / 108-319 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T2","span":{"begin":0,"end":100},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":101,"end":211},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":211},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":100},"obj":"Sentence"},{"id":"T3","span":{"begin":101,"end":211},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"The Large(myd) mouse has a loss-of-function mutation in the putative glycosyltransferase gene Large. Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}

{"project":"GlycoBiology-GDGDB","denotations":[{"id":"_T2","span":{"begin":133,"end":138},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383"},{"id":"_T11","span":{"begin":173,"end":202},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00381"},{"id":"_T12","span":{"begin":173,"end":209},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383"},{"id":"_T13","span":{"begin":204,"end":209},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383"}],"text":"The Large(myd) mouse has a loss-of-function mutation in the putative glycosyltransferase gene Large. Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}

{"project":"ICD10","denotations":[{"id":"T1","span":{"begin":184,"end":202},"obj":"http://purl.bioontology.org/ontology/ICD10/G71.0"}],"text":"The Large(myd) mouse has a loss-of-function mutation in the putative glycosyltransferase gene Large. Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}

{"project":"uniprot-human","denotations":[{"id":"T2","span":{"begin":133,"end":138},"obj":"http://www.uniprot.org/uniprot/Q9UH22"}],"text":"The Large(myd) mouse has a loss-of-function mutation in the putative glycosyltransferase gene Large. Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}

{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":173,"end":202},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003560"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"The Large(myd) mouse has a loss-of-function mutation in the putative glycosyltransferase gene Large. Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}

{"project":"mondo_disease","denotations":[{"id":"T2","span":{"begin":173,"end":202},"obj":"Disease"},{"id":"T3","span":{"begin":204,"end":209},"obj":"Disease"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0019950"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0012138"}],"text":"The Large(myd) mouse has a loss-of-function mutation in the putative glycosyltransferase gene Large. Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}

{"project":"NCBITAXON","denotations":[{"id":"T1","span":{"begin":15,"end":20},"obj":"OrganismTaxon"},{"id":"T3","span":{"begin":118,"end":123},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"10088"},{"id":"A2","pred":"db_id","subj":"T1","obj":"10090"},{"id":"A3","pred":"db_id","subj":"T3","obj":"9606"}],"text":"The Large(myd) mouse has a loss-of-function mutation in the putative glycosyltransferase gene Large. Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D)."}