PubMed:23528852 / 367-524
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/23528852","sourcedb":"PubMed","sourceid":"23528852","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/23528852","text":"Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene.","tracks":[{"project":"sentences","denotations":[{"id":"TextSentencer_T4","span":{"begin":0,"end":157},"obj":"Sentence"},{"id":"T4","span":{"begin":0,"end":157},"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"}]},{"project":"DisGeNET","denotations":[{"id":"T12","span":{"begin":145,"end":151},"obj":"gene:7846"},{"id":"T13","span":{"begin":86,"end":104},"obj":"disease:C0014544"}],"relations":[{"id":"R7","pred":"associated_with","subj":"T12","obj":"T13"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T12","pred":"source","obj":"DisGeNET"},{"subj":"T13","pred":"source","obj":"DisGeNET"}]},{"project":"PubmedHPO","denotations":[{"id":"T2","span":{"begin":41,"end":54},"obj":"HP_0001339"},{"id":"T3","span":{"begin":56,"end":68},"obj":"HP_0000252"},{"id":"T4","span":{"begin":96,"end":104},"obj":"HP_0001250"}],"attributes":[{"subj":"T2","pred":"source","obj":"PubmedHPO"},{"subj":"T3","pred":"source","obj":"PubmedHPO"},{"subj":"T4","pred":"source","obj":"PubmedHPO"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"23528852-0#42#55#diseaseC0266463","span":{"begin":41,"end":54},"obj":"diseaseC0266463"},{"id":"23528852-3#145#151#gene7846","span":{"begin":145,"end":151},"obj":"gene7846"},{"id":"23528852-3#86#104#diseaseC0014544","span":{"begin":86,"end":104},"obj":"diseaseC0014544"}],"relations":[{"id":"145#151#gene784686#104#diseaseC0014544","pred":"associated_with","subj":"23528852-3#145#151#gene7846","obj":"23528852-3#86#104#diseaseC0014544"}],"attributes":[{"subj":"23528852-0#42#55#diseaseC0266463","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"23528852-3#145#151#gene7846","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"23528852-3#86#104#diseaseC0014544","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"PubCasesHPO","denotations":[{"id":"AB2","span":{"begin":41,"end":54},"obj":"HP:0001339"},{"id":"AB3","span":{"begin":56,"end":68},"obj":"HP:0000252"},{"id":"AB4","span":{"begin":96,"end":104},"obj":"HP:0001250"}],"attributes":[{"subj":"AB2","pred":"source","obj":"PubCasesHPO"},{"subj":"AB3","pred":"source","obj":"PubCasesHPO"},{"subj":"AB4","pred":"source","obj":"PubCasesHPO"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"sentences","color":"#93ecdd","default":true},{"id":"DisGeNET","color":"#ecc393"},{"id":"PubmedHPO","color":"#a993ec"},{"id":"DisGeNET5_gene_disease","color":"#96ec93"},{"id":"PubCasesHPO","color":"#ec93b0"}]}]}}