PubMed:23528852 / 0-158
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":81},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":81},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.\nGene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtub"}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":10,"end":16},"obj":"gene:7846"},{"id":"T1","span":{"begin":42,"end":55},"obj":"disease:C0266463"},{"id":"T2","span":{"begin":10,"end":16},"obj":"gene:7846"},{"id":"T3","span":{"begin":60,"end":80},"obj":"disease:C0019569"},{"id":"T4","span":{"begin":10,"end":16},"obj":"gene:7846"},{"id":"T5","span":{"begin":60,"end":80},"obj":"disease:C2931876"},{"id":"T6","span":{"begin":99,"end":115},"obj":"gene:7846"},{"id":"T8","span":{"begin":117,"end":123},"obj":"gene:7846"},{"id":"T10","span":{"begin":117,"end":123},"obj":"gene:7846"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.\nGene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtub"}
Allie
{"project":"Allie","denotations":[{"id":"SS1_23528852_1_0","span":{"begin":99,"end":115},"obj":"expanded"},{"id":"SS2_23528852_1_0","span":{"begin":117,"end":123},"obj":"abbr"}],"relations":[{"id":"AE1_23528852_1_0","pred":"abbreviatedTo","subj":"SS1_23528852_1_0","obj":"SS2_23528852_1_0"}],"text":"A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.\nGene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtub"}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":42,"end":55},"obj":"HP:0001339"}],"text":"A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.\nGene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtub"}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":60,"end":80},"obj":"ORDO:388"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.\nGene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtub"}