PubMed:1674745 / 0-194
Annnotations
PubTator4TogoVar
{"project":"PubTator4TogoVar","denotations":[{"id":"1674745_0","span":{"begin":32,"end":44},"obj":"ProteinMutation"}],"attributes":[{"id":"1674745_0_ProteinMutation","pred":"proteinmutation","subj":"1674745_0","obj":"rs1434244093"}],"text":"Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.\nThe molecu"}
sentences
{"project":"sentences","denotations":[{"id":"T1","span":{"begin":0,"end":60},"obj":"Sentence"},{"id":"T2","span":{"begin":61,"end":183},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":60},"obj":"Sentence"},{"id":"T2","span":{"begin":61,"end":183},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.\nThe molecu"}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"1674745-0#0#16#gene348","span":{"begin":0,"end":16},"obj":"gene348"},{"id":"1674745-0#110#126#gene348","span":{"begin":110,"end":126},"obj":"gene348"},{"id":"1674745-0#153#182#diseaseC0020479","span":{"begin":153,"end":182},"obj":"diseaseC0020479"}],"relations":[{"id":"0#16#gene348153#182#diseaseC0020479","pred":"associated_with","subj":"1674745-0#0#16#gene348","obj":"1674745-0#153#182#diseaseC0020479"},{"id":"110#126#gene348153#182#diseaseC0020479","pred":"associated_with","subj":"1674745-0#110#126#gene348","obj":"1674745-0#153#182#diseaseC0020479"}],"text":"Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.\nThe molecu"}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":162,"end":182},"obj":"HP:0010980"}],"text":"Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.\nThe molecu"}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":0,"end":16},"obj":"gene:348"},{"id":"T1","span":{"begin":153,"end":182},"obj":"disease:C0020479"},{"id":"T2","span":{"begin":110,"end":126},"obj":"gene:348"},{"id":"T3","span":{"begin":153,"end":182},"obj":"disease:C0020479"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"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":"Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.\nThe molecu"}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":162,"end":182},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0037748"}],"text":"Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.\nThe molecu"}
HP-phenotype
{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":162,"end":182},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0010980"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.\nThe molecu"}