PubMed:1674745 / 61-183
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"T2","span":{"begin":0,"end":122},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":122},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia."}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"1674745-0#110#126#gene348","span":{"begin":49,"end":65},"obj":"gene348"},{"id":"1674745-0#153#182#diseaseC0020479","span":{"begin":92,"end":121},"obj":"diseaseC0020479"}],"relations":[{"id":"110#126#gene348153#182#diseaseC0020479","pred":"associated_with","subj":"1674745-0#110#126#gene348","obj":"1674745-0#153#182#diseaseC0020479"}],"text":"Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia."}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":101,"end":121},"obj":"HP:0010980"}],"text":"Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia."}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T1","span":{"begin":92,"end":121},"obj":"disease:C0020479"},{"id":"T2","span":{"begin":49,"end":65},"obj":"gene:348"},{"id":"T3","span":{"begin":92,"end":121},"obj":"disease:C0020479"}],"relations":[{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia."}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":101,"end":121},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0037748"}],"text":"Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia."}
HP-phenotype
{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":101,"end":121},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0010980"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia."}