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PubMed:10367795 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-146 Sentence denotes Fetal hemoglobin expression in the compound heterozygous state for -117 (G-->A) Agamma HPFH and IVSII-745 (C-->G) beta+ thalassemia: a case study.
TextSentencer_T2 147-240 Sentence denotes We studied a family in which two inherited defects of the non-alpha-globin cluster segregate:
TextSentencer_T3 241-318 Sentence denotes Greek hereditary persistence of fetal hemoglobin (HPFH) and beta-thalassemia.
TextSentencer_T4 319-616 Sentence denotes The compound heterozygote is a healthy man with 43% HbF, Ggamma/Agamma ratio (27:73) differing from that of 10 simple heterozygotes for the Greek HPFH (92:8), normal levels of total Hb (13.3 g/dl), and reduced HbA2 levels comparing with the levels of beta-thal heterozygotes for the same mutation.
TextSentencer_T5 617-777 Sentence denotes Molecular analysis of the beta-globin genotype revealed the presence of the IVSII-745 (C-->G) beta+ RNA splice mutation in trans with the -117 G-->A Greek HPFH.
TextSentencer_T6 778-877 Sentence denotes The beta+ mutation was linked to haplotype VII and the Greek HPFH was associated with haplotype Ia.
TextSentencer_T7 878-1028 Sentence denotes The father of the compound heterozygote carries the Greek HPFH in trans with the -158 C-->T on the Ggamma promoter, which is linked with haplotype IV.
TextSentencer_T8 1029-1085 Sentence denotes He presented 13.5% HbF with a Ggamma/Agamma ratio 75:25.
TextSentencer_T9 1086-1248 Sentence denotes His daughter was a compound heterozygote for the IVSII-745 mutation in trans with the -158 C-->T, while her HbF levels were 3.7% with a Ggamma/Agamma ratio 31:69.
T1 0-146 Sentence denotes Fetal hemoglobin expression in the compound heterozygous state for -117 (G-->A) Agamma HPFH and IVSII-745 (C-->G) beta+ thalassemia: a case study.
T2 147-240 Sentence denotes We studied a family in which two inherited defects of the non-alpha-globin cluster segregate:
T3 241-318 Sentence denotes Greek hereditary persistence of fetal hemoglobin (HPFH) and beta-thalassemia.
T4 319-616 Sentence denotes The compound heterozygote is a healthy man with 43% HbF, Ggamma/Agamma ratio (27:73) differing from that of 10 simple heterozygotes for the Greek HPFH (92:8), normal levels of total Hb (13.3 g/dl), and reduced HbA2 levels comparing with the levels of beta-thal heterozygotes for the same mutation.
T5 617-777 Sentence denotes Molecular analysis of the beta-globin genotype revealed the presence of the IVSII-745 (C-->G) beta+ RNA splice mutation in trans with the -117 G-->A Greek HPFH.
T6 778-877 Sentence denotes The beta+ mutation was linked to haplotype VII and the Greek HPFH was associated with haplotype Ia.
T7 878-1028 Sentence denotes The father of the compound heterozygote carries the Greek HPFH in trans with the -158 C-->T on the Ggamma promoter, which is linked with haplotype IV.
T8 1029-1085 Sentence denotes He presented 13.5% HbF with a Ggamma/Agamma ratio 75:25.
T9 1086-1248 Sentence denotes His daughter was a compound heterozygote for the IVSII-745 mutation in trans with the -158 C-->T, while her HbF levels were 3.7% with a Ggamma/Agamma ratio 31:69.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10367795-1#62#74#gene3039 209-221 gene3039 denotes alpha-globin
10367795-1#62#74#gene3040 209-221 gene3040 denotes alpha-globin
10367795-1#154#170#diseaseC0005283 301-317 diseaseC0005283 denotes beta-thalassemia
10367795-1#154#170#diseaseC3841475 301-317 diseaseC3841475 denotes beta-thalassemia
10367795-1#154#170#diseaseC0005283 301-317 diseaseC0005283 denotes beta-thalassemia
10367795-1#154#170#diseaseC3841475 301-317 diseaseC3841475 denotes beta-thalassemia
62#74#gene3039154#170#diseaseC0005283 10367795-1#62#74#gene3039 10367795-1#154#170#diseaseC0005283 associated_with alpha-globin,beta-thalassemia
62#74#gene3039154#170#diseaseC3841475 10367795-1#62#74#gene3039 10367795-1#154#170#diseaseC3841475 associated_with alpha-globin,beta-thalassemia
62#74#gene3039154#170#diseaseC0005283 10367795-1#62#74#gene3039 10367795-1#154#170#diseaseC0005283 associated_with alpha-globin,beta-thalassemia
62#74#gene3039154#170#diseaseC3841475 10367795-1#62#74#gene3039 10367795-1#154#170#diseaseC3841475 associated_with alpha-globin,beta-thalassemia
62#74#gene3040154#170#diseaseC0005283 10367795-1#62#74#gene3040 10367795-1#154#170#diseaseC0005283 associated_with alpha-globin,beta-thalassemia
62#74#gene3040154#170#diseaseC3841475 10367795-1#62#74#gene3040 10367795-1#154#170#diseaseC3841475 associated_with alpha-globin,beta-thalassemia
62#74#gene3040154#170#diseaseC0005283 10367795-1#62#74#gene3040 10367795-1#154#170#diseaseC0005283 associated_with alpha-globin,beta-thalassemia
62#74#gene3040154#170#diseaseC3841475 10367795-1#62#74#gene3040 10367795-1#154#170#diseaseC3841475 associated_with alpha-globin,beta-thalassemia

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T46 209-221 gene:3039 denotes alpha-globin
T47 301-317 disease:C0005283 denotes beta-thalassemia
R1 T46 T47 associated_with alpha-globin,beta-thalassemia
R2 T46 T47 associated_with alpha-globin,beta-thalassemia
R3 T46 T47 associated_with alpha-globin,beta-thalassemia
R4 T46 T47 associated_with alpha-globin,beta-thalassemia

DisGeNET

Id Subject Object Predicate Lexical cue
T0 209-221 gene:3040 denotes alpha-globin
T1 247-289 disease:C0019025 denotes hereditary persistence of fetal hemoglobin
T2 209-221 gene:3039 denotes alpha-globin
T3 247-289 disease:C0019025 denotes hereditary persistence of fetal hemoglobin
T4 209-221 gene:3040 denotes alpha-globin
T5 291-295 disease:C0271994 denotes HPFH
T6 209-221 gene:3039 denotes alpha-globin
T7 291-295 disease:C0271994 denotes HPFH
T8 209-221 gene:3040 denotes alpha-globin
T9 301-317 disease:C0005283 denotes beta-thalassemia
T10 209-221 gene:3039 denotes alpha-globin
T11 301-317 disease:C0005283 denotes beta-thalassemia
R1 T0 T1 associated_with alpha-globin,hereditary persistence of fetal hemoglobin
R2 T2 T3 associated_with alpha-globin,hereditary persistence of fetal hemoglobin
R3 T4 T5 associated_with alpha-globin,HPFH
R4 T6 T7 associated_with alpha-globin,HPFH
R5 T8 T9 associated_with alpha-globin,beta-thalassemia
R6 T10 T11 associated_with alpha-globin,beta-thalassemia