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PubMed:1674745 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
1674745_0 32-44 ProteinMutation denotes Glu13----Lys rs1434244093

sentences

Id Subject Object Predicate Lexical cue
T1 0-60 Sentence denotes Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys).
T2 61-183 Sentence denotes Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.
T3 184-297 Sentence denotes The molecular defect in a 24-year-old white female with severe type III hyperlipoproteinemia has been elucidated.
T4 298-396 Sentence denotes The patient's apolipoprotein (apo) E migrated in the apoE-4 position on isoelectric focusing gels.
T5 397-544 Sentence denotes On sodium dodecyl sulfate-polyacrylamide gel electrophoresis the apoE-4 variant had a smaller apparent molecular weight than apoE-4(Cys112----Arg).
T6 545-680 Sentence denotes Sequence analysis of DNA amplified with the polymerase chain reaction revealed two nucleotide substitutions in the proband's apoE gene.
T7 681-813 Sentence denotes A C to T mutation converted arginine (CGT) at position 145 of the mature protein to cysteine (TGT) thus creating the apoE-2 variant.
T8 814-1008 Sentence denotes A second G to A substitution at amino acid 13 led to the exchange of lysine (AAG) for glutamic acid (GAG), thereby adding 2 positive charge units to the protein and producing the apoE-5 variant.
T9 1009-1158 Sentence denotes Computer analysis of the apoE-4Philadelphia gene revealed that the G to A mutation in exon 3 resulted in the loss of an AvaI restriction enzyme site.
T10 1159-1286 Sentence denotes The second mutation, a C to T substitution in the fourth exon of the apoE gene, eliminated a cleavage site for the enzyme BbvI.
T11 1287-1468 Sentence denotes Using these restriction fragment length polymorphisms as well as DNA sequence analysis we have demonstrated that the patient is homozygous for both point mutations in the apoE gene.
T1 0-60 Sentence denotes Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys).
T2 61-183 Sentence denotes Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.
T3 184-297 Sentence denotes The molecular defect in a 24-year-old white female with severe type III hyperlipoproteinemia has been elucidated.
T4 298-396 Sentence denotes The patient's apolipoprotein (apo) E migrated in the apoE-4 position on isoelectric focusing gels.
T5 397-544 Sentence denotes On sodium dodecyl sulfate-polyacrylamide gel electrophoresis the apoE-4 variant had a smaller apparent molecular weight than apoE-4(Cys112----Arg).
T6 545-680 Sentence denotes Sequence analysis of DNA amplified with the polymerase chain reaction revealed two nucleotide substitutions in the proband's apoE gene.
T7 681-813 Sentence denotes A C to T mutation converted arginine (CGT) at position 145 of the mature protein to cysteine (TGT) thus creating the apoE-2 variant.
T8 814-1008 Sentence denotes A second G to A substitution at amino acid 13 led to the exchange of lysine (AAG) for glutamic acid (GAG), thereby adding 2 positive charge units to the protein and producing the apoE-5 variant.
T9 1009-1158 Sentence denotes Computer analysis of the apoE-4Philadelphia gene revealed that the G to A mutation in exon 3 resulted in the loss of an AvaI restriction enzyme site.
T10 1159-1286 Sentence denotes The second mutation, a C to T substitution in the fourth exon of the apoE gene, eliminated a cleavage site for the enzyme BbvI.
T11 1287-1468 Sentence denotes Using these restriction fragment length polymorphisms as well as DNA sequence analysis we have demonstrated that the patient is homozygous for both point mutations in the apoE gene.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
1674745-0#0#16#gene348 0-16 gene348 denotes Apolipoprotein E
1674745-0#110#126#gene348 110-126 gene348 denotes apolipoprotein E
1674745-0#153#182#diseaseC0020479 153-182 diseaseC0020479 denotes type III hyperlipoproteinemia
0#16#gene348153#182#diseaseC0020479 1674745-0#0#16#gene348 1674745-0#153#182#diseaseC0020479 associated_with Apolipoprotein E,type III hyperlipoproteinemia
110#126#gene348153#182#diseaseC0020479 1674745-0#110#126#gene348 1674745-0#153#182#diseaseC0020479 associated_with apolipoprotein E,type III hyperlipoproteinemia

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 256-276 HP:0010980 denotes hyperlipoproteinemia
TI1 162-182 HP:0010980 denotes hyperlipoproteinemia

DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-16 gene:348 denotes Apolipoprotein E
T1 153-182 disease:C0020479 denotes type III hyperlipoproteinemia
T2 110-126 gene:348 denotes apolipoprotein E
T3 153-182 disease:C0020479 denotes type III hyperlipoproteinemia
R1 T0 T1 associated_with Apolipoprotein E,type III hyperlipoproteinemia
R2 T2 T3 associated_with apolipoprotein E,type III hyperlipoproteinemia

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 162-182 Disease denotes hyperlipoproteinemia http://purl.obolibrary.org/obo/MONDO_0037748
T2 256-276 Disease denotes hyperlipoproteinemia http://purl.obolibrary.org/obo/MONDO_0037748

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 162-182 Phenotype denotes hyperlipoproteinemia HP:0010980
T2 256-276 Phenotype denotes hyperlipoproteinemia HP:0010980

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 1404-1411 OrganismTaxon denotes patient 9606