PubMed:18490429 / 386-523
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/18490429","sourcedb":"PubMed","sourceid":"18490429","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/18490429","text":"Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan.","tracks":[{"project":"sentences","denotations":[{"id":"TextSentencer_T4","span":{"begin":0,"end":137},"obj":"Sentence"},{"id":"T4","span":{"begin":0,"end":137},"obj":"Sentence"},{"id":"T4","span":{"begin":0,"end":137},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"}]},{"project":"DisGeNET","denotations":[{"id":"T2","span":{"begin":118,"end":136},"obj":"gene:1605"},{"id":"T3","span":{"begin":63,"end":83},"obj":"disease:C0026850"},{"id":"T4","span":{"begin":29,"end":34},"obj":"gene:29954"},{"id":"T5","span":{"begin":63,"end":83},"obj":"disease:C0026850"},{"id":"T6","span":{"begin":19,"end":24},"obj":"gene:10585"},{"id":"T7","span":{"begin":63,"end":83},"obj":"disease:C0026850"}],"relations":[{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"},{"subj":"T6","pred":"source","obj":"DisGeNET"},{"subj":"T7","pred":"source","obj":"DisGeNET"}]},{"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"}],"attributes":[{"subj":"_T4","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T5","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T10","pred":"source","obj":"GlycoBiology-GDGDB"},{"subj":"_T11","pred":"source","obj":"GlycoBiology-GDGDB"}]},{"project":"ICD10","denotations":[{"id":"T1","span":{"begin":63,"end":83},"obj":"http://purl.bioontology.org/ontology/ICD10/G71.0"}],"attributes":[{"subj":"T1","pred":"source","obj":"ICD10"}]},{"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"}],"attributes":[{"subj":"T3","pred":"source","obj":"uniprot-human"},{"subj":"T5","pred":"source","obj":"uniprot-human"},{"subj":"T7","pred":"source","obj":"uniprot-human"}]},{"project":"uniprot-mouse","denotations":[{"id":"T1","span":{"begin":124,"end":136},"obj":"http://www.uniprot.org/uniprot/Q62165"}],"attributes":[{"subj":"T1","pred":"source","obj":"uniprot-mouse"}]},{"project":"GlycoBiology-NCBITAXON","denotations":[{"id":"T3","span":{"begin":43,"end":48},"obj":"http://purl.bioontology.org/ontology/STY/T096"}],"attributes":[{"subj":"T3","pred":"source","obj":"GlycoBiology-NCBITAXON"}]},{"project":"GO-BP","denotations":[{"id":"T8","span":{"begin":101,"end":114},"obj":"http://purl.obolibrary.org/obo/GO_0070085"}],"attributes":[{"subj":"T8","pred":"source","obj":"GO-BP"}]},{"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"}],"attributes":[{"subj":"18490429-3#29#34#gene29954","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"18490429-3#118#136#gene1605","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"18490429-3#63#83#diseaseC0026850","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":52,"end":83},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003560"},{"subj":"T1","pred":"source","obj":"HP-phenotype"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}]},{"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"},{"subj":"T2","pred":"source","obj":"mondo_disease"}]},{"project":"NCBITAXON","denotations":[{"id":"T1","span":{"begin":13,"end":18},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"9606"},{"subj":"T1","pred":"source","obj":"NCBITAXON"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"sentences","color":"#bc93ec","default":true},{"id":"DisGeNET","color":"#93eca2"},{"id":"GlycoBiology-GDGDB","color":"#ec939d"},{"id":"ICD10","color":"#93b7ec"},{"id":"uniprot-human","color":"#d1ec93"},{"id":"uniprot-mouse","color":"#ec93eb"},{"id":"GlycoBiology-NCBITAXON","color":"#93ecd3"},{"id":"GO-BP","color":"#ecb893"},{"id":"DisGeNET5_gene_disease","color":"#9e93ec"},{"id":"HP-phenotype","color":"#a1ec93"},{"id":"mondo_disease","color":"#ec93bb"},{"id":"NCBITAXON","color":"#93d5ec"}]}]}}