PubMed:18490429 / 386-523 JSONTXT

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{"project":"GlycoBiology-GDGDB","denotations":[{"id":"_T4","span":{"begin":19,"end":24},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376"},{"id":"_T5","span":{"begin":29,"end":34},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376"},{"id":"_T10","span":{"begin":52,"end":83},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00381"},{"id":"_T11","span":{"begin":52,"end":83},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383"}],"text":"Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan."}

{"project":"ICD10","denotations":[{"id":"T1","span":{"begin":63,"end":83},"obj":"http://purl.bioontology.org/ontology/ICD10/G71.0"}],"text":"Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan."}

{"project":"uniprot-human","denotations":[{"id":"T3","span":{"begin":29,"end":34},"obj":"http://www.uniprot.org/uniprot/Q9UKY4"},{"id":"T5","span":{"begin":19,"end":24},"obj":"http://www.uniprot.org/uniprot/Q9NX32"},{"id":"T7","span":{"begin":124,"end":136},"obj":"http://www.uniprot.org/uniprot/Q14118"}],"text":"Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan."}

{"project":"uniprot-mouse","denotations":[{"id":"T1","span":{"begin":124,"end":136},"obj":"http://www.uniprot.org/uniprot/Q62165"}],"text":"Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan."}

{"project":"GlycoBiology-NCBITAXON","denotations":[{"id":"T3","span":{"begin":43,"end":48},"obj":"http://purl.bioontology.org/ontology/STY/T096"}],"text":"Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan."}

{"project":"GO-BP","denotations":[{"id":"T8","span":{"begin":101,"end":114},"obj":"http://purl.obolibrary.org/obo/GO_0070085"}],"text":"Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"18490429-3#29#34#gene29954","span":{"begin":29,"end":34},"obj":"gene29954"},{"id":"18490429-3#118#136#gene1605","span":{"begin":118,"end":136},"obj":"gene1605"},{"id":"18490429-3#63#83#diseaseC0026850","span":{"begin":63,"end":83},"obj":"diseaseC0026850"}],"relations":[{"id":"29#34#gene2995463#83#diseaseC0026850","pred":"associated_with","subj":"18490429-3#29#34#gene29954","obj":"18490429-3#63#83#diseaseC0026850"},{"id":"118#136#gene160563#83#diseaseC0026850","pred":"associated_with","subj":"18490429-3#118#136#gene1605","obj":"18490429-3#63#83#diseaseC0026850"}],"text":"Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan."}

{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":52,"end":83},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003560"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan."}

{"project":"mondo_disease","denotations":[{"id":"T2","span":{"begin":52,"end":83},"obj":"Disease"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0019950"}],"text":"Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan."}

{"project":"NCBITAXON","denotations":[{"id":"T1","span":{"begin":13,"end":18},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"9606"}],"text":"Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan."}