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PubMed:21790735 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-115 Sentence denotes A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema.
TextSentencer_T2 116-276 Sentence denotes C1 inhibitor (C1-INH) deficiency [hereditary or acquired angio-oedema (HAE or AAE)] is characterized by recurring episodes of subcutaneous or submucosal oedema.
TextSentencer_T3 277-360 Sentence denotes Many different mutations in the C1-INH gene have been identified as a cause of HAE.
TextSentencer_T4 361-450 Sentence denotes We investigated the molecular basis of the disease in a Japanese woman with sporadic HAE.
TextSentencer_T5 451-530 Sentence denotes Direct sequencing of genomic DNA revealed no point mutation in the C1-INH gene.
TextSentencer_T6 531-655 Sentence denotes Quantitative real-time PCR showed that the copy number of the C1-INH gene in the patient was half that of a healthy control.
TextSentencer_T7 656-752 Sentence denotes Furthermore, we identified a 650-kbp deletion on the chromosome, which included the C1-INH gene.
TextSentencer_T8 753-841 Sentence denotes We evaluated the correlation between the patient's attacks and her coagulation activity.
TextSentencer_T9 842-1038 Sentence denotes The levels of D-dimer were high during the angio-oedema attacks, and often exceeded the normal range even during remission, thus the level of D-dimer reflected the activity of HAE in this patient.
T1 0-115 Sentence denotes A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema.
T2 116-276 Sentence denotes C1 inhibitor (C1-INH) deficiency [hereditary or acquired angio-oedema (HAE or AAE)] is characterized by recurring episodes of subcutaneous or submucosal oedema.
T3 277-360 Sentence denotes Many different mutations in the C1-INH gene have been identified as a cause of HAE.
T4 361-450 Sentence denotes We investigated the molecular basis of the disease in a Japanese woman with sporadic HAE.
T5 451-530 Sentence denotes Direct sequencing of genomic DNA revealed no point mutation in the C1-INH gene.
T6 531-655 Sentence denotes Quantitative real-time PCR showed that the copy number of the C1-INH gene in the patient was half that of a healthy control.
T7 656-752 Sentence denotes Furthermore, we identified a 650-kbp deletion on the chromosome, which included the C1-INH gene.
T8 753-841 Sentence denotes We evaluated the correlation between the patient's attacks and her coagulation activity.
T9 842-1038 Sentence denotes The levels of D-dimer were high during the angio-oedema attacks, and often exceeded the normal range even during remission, thus the level of D-dimer reflected the activity of HAE in this patient.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 179-185 HP_0000969 denotes oedema
T2 269-275 HP_0000969 denotes oedema
T3 891-897 HP_0000969 denotes oedema

Allie

Id Subject Object Predicate Lexical cue
SS1_21790735_1_0 116-128 expanded denotes C1 inhibitor
SS2_21790735_1_0 130-136 abbr denotes C1-INH
SS1_21790735_1_1 150-185 expanded denotes hereditary or acquired angio-oedema
SS2_21790735_1_1 187-197 abbr denotes HAE or AAE
AE1_21790735_1_0 SS1_21790735_1_0 SS2_21790735_1_0 abbreviatedTo C1 inhibitor,C1-INH
AE1_21790735_1_1 SS1_21790735_1_1 SS2_21790735_1_1 abbreviatedTo hereditary or acquired angio-oedema,HAE or AAE

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 258-268 http://purl.obolibrary.org/obo/UBERON_0000009 denotes submucosal

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 187-190 ORDO:238468 denotes HAE
AB2 356-359 ORDO:238468 denotes HAE
AB3 446-449 ORDO:238468 denotes HAE
AB4 1018-1021 ORDO:238468 denotes HAE

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 258-268 http://purl.obolibrary.org/obo/UBERON_0000009 denotes submucosal