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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-121 Sentence denotes Screening for mutations in exons encoding the ligand-binding domain of the LDL receptor gene using PCR-CFLP and PCR-SSCP.
TextSentencer_T2 122-210 Sentence denotes Primary hypercholesterolemia includes both monogenic disorders and polygenic conditions.
TextSentencer_T3 211-343 Sentence denotes Two well defined monogenic disorders are familial hypercholesterolemia (FH) and familial defective apolipoprotein (apo) B-100 (FDB).
TextSentencer_T4 344-413 Sentence denotes Both disorders convey high risk of premature coronary artery disease.
TextSentencer_T5 414-499 Sentence denotes FH and FDB are caused by mutations in LDL receptor and apo B-100 genes, respectively.
TextSentencer_T6 500-611 Sentence denotes In the present study, mutations in both genes in Thai subjects with primary hypercholesterolemia were screened.
TextSentencer_T7 612-670 Sentence denotes For apo B-100 gene, a common mutation R3500Q was screened.
TextSentencer_T8 671-727 Sentence denotes This mutation was not observed in the patients (n = 45).
TextSentencer_T9 728-823 Sentence denotes For LDL receptor gene, mutations in the exons encoding the ligand-binding domain were screened.
TextSentencer_T10 824-941 Sentence denotes By PCR-CFLP analysis, 18 abnormal CFLP patterns in exon 4, the hot spot for mutations, were found in patients (n=45).
TextSentencer_T11 942-1085 Sentence denotes One of the DNA samples with abnormal CFLP patterns was previously identified and reported as a possible disease-causing mutation, namely D151Y.
TextSentencer_T12 1086-1144 Sentence denotes For the other exons, the screening technique was PCR-SSCP.
TextSentencer_T13 1145-1282 Sentence denotes Abnormal SSCP patterns in DNA samples from patients (n=20) were found as follows, two in exon 3, one in exon 5 and another one in exon 6.
TextSentencer_T14 1283-1386 Sentence denotes Further characterization by DNA sequencing and family studies for these abnormal patterns are underway.
T1 0-121 Sentence denotes Screening for mutations in exons encoding the ligand-binding domain of the LDL receptor gene using PCR-CFLP and PCR-SSCP.
T2 122-210 Sentence denotes Primary hypercholesterolemia includes both monogenic disorders and polygenic conditions.
T3 211-343 Sentence denotes Two well defined monogenic disorders are familial hypercholesterolemia (FH) and familial defective apolipoprotein (apo) B-100 (FDB).
T4 344-413 Sentence denotes Both disorders convey high risk of premature coronary artery disease.
T5 414-499 Sentence denotes FH and FDB are caused by mutations in LDL receptor and apo B-100 genes, respectively.
T6 500-611 Sentence denotes In the present study, mutations in both genes in Thai subjects with primary hypercholesterolemia were screened.
T7 612-670 Sentence denotes For apo B-100 gene, a common mutation R3500Q was screened.
T8 671-727 Sentence denotes This mutation was not observed in the patients (n = 45).
T9 728-823 Sentence denotes For LDL receptor gene, mutations in the exons encoding the ligand-binding domain were screened.
T10 824-941 Sentence denotes By PCR-CFLP analysis, 18 abnormal CFLP patterns in exon 4, the hot spot for mutations, were found in patients (n=45).
T11 942-1085 Sentence denotes One of the DNA samples with abnormal CFLP patterns was previously identified and reported as a possible disease-causing mutation, namely D151Y.
T12 1086-1144 Sentence denotes For the other exons, the screening technique was PCR-SSCP.
T13 1145-1282 Sentence denotes Abnormal SSCP patterns in DNA samples from patients (n=20) were found as follows, two in exon 3, one in exon 5 and another one in exon 6.
T14 1283-1386 Sentence denotes Further characterization by DNA sequencing and family studies for these abnormal patterns are underway.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 130-150 HP_0003124 denotes hypercholesterolemia
T2 261-281 HP_0003124 denotes hypercholesterolemia
T3 379-412 HP_0005181 denotes premature coronary artery disease
T4 389-412 HP_0001677 denotes coronary artery disease
T5 576-596 HP_0003124 denotes hypercholesterolemia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
12002902-2#115#125#gene338 326-336 gene338 denotes apo) B-100
12002902-2#127#130#gene338 338-341 gene338 denotes FDB
12002902-2#41#70#diseaseC0745103 252-281 diseaseC0745103 denotes familial hypercholesterolemia
12002902-2#41#70#diseaseC0020445 252-281 diseaseC0020445 denotes familial hypercholesterolemia
12002902-2#72#74#diseaseC0745103 283-285 diseaseC0745103 denotes FH
12002902-2#72#74#diseaseC0020445 283-285 diseaseC0020445 denotes FH
12002902-2#41#70#diseaseC0745103 252-281 diseaseC0745103 denotes familial hypercholesterolemia
12002902-2#41#70#diseaseC0020445 252-281 diseaseC0020445 denotes familial hypercholesterolemia
12002902-2#72#74#diseaseC0745103 283-285 diseaseC0745103 denotes FH
12002902-2#72#74#diseaseC0020445 283-285 diseaseC0020445 denotes FH
115#125#gene33841#70#diseaseC0745103 12002902-2#115#125#gene338 12002902-2#41#70#diseaseC0745103 associated_with apo) B-100,familial hypercholesterolemia
115#125#gene33841#70#diseaseC0020445 12002902-2#115#125#gene338 12002902-2#41#70#diseaseC0020445 associated_with apo) B-100,familial hypercholesterolemia
115#125#gene33872#74#diseaseC0745103 12002902-2#115#125#gene338 12002902-2#72#74#diseaseC0745103 associated_with apo) B-100,FH
115#125#gene33872#74#diseaseC0020445 12002902-2#115#125#gene338 12002902-2#72#74#diseaseC0020445 associated_with apo) B-100,FH
115#125#gene33841#70#diseaseC0745103 12002902-2#115#125#gene338 12002902-2#41#70#diseaseC0745103 associated_with apo) B-100,familial hypercholesterolemia
115#125#gene33841#70#diseaseC0020445 12002902-2#115#125#gene338 12002902-2#41#70#diseaseC0020445 associated_with apo) B-100,familial hypercholesterolemia
115#125#gene33872#74#diseaseC0745103 12002902-2#115#125#gene338 12002902-2#72#74#diseaseC0745103 associated_with apo) B-100,FH
115#125#gene33872#74#diseaseC0020445 12002902-2#115#125#gene338 12002902-2#72#74#diseaseC0020445 associated_with apo) B-100,FH
127#130#gene33841#70#diseaseC0745103 12002902-2#127#130#gene338 12002902-2#41#70#diseaseC0745103 associated_with FDB,familial hypercholesterolemia
127#130#gene33841#70#diseaseC0020445 12002902-2#127#130#gene338 12002902-2#41#70#diseaseC0020445 associated_with FDB,familial hypercholesterolemia
127#130#gene33872#74#diseaseC0745103 12002902-2#127#130#gene338 12002902-2#72#74#diseaseC0745103 associated_with FDB,FH
127#130#gene33872#74#diseaseC0020445 12002902-2#127#130#gene338 12002902-2#72#74#diseaseC0020445 associated_with FDB,FH
127#130#gene33841#70#diseaseC0745103 12002902-2#127#130#gene338 12002902-2#41#70#diseaseC0745103 associated_with FDB,familial hypercholesterolemia
127#130#gene33841#70#diseaseC0020445 12002902-2#127#130#gene338 12002902-2#41#70#diseaseC0020445 associated_with FDB,familial hypercholesterolemia
127#130#gene33872#74#diseaseC0745103 12002902-2#127#130#gene338 12002902-2#72#74#diseaseC0745103 associated_with FDB,FH
127#130#gene33872#74#diseaseC0020445 12002902-2#127#130#gene338 12002902-2#72#74#diseaseC0020445 associated_with FDB,FH

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T1415 326-336 gene:338 denotes apo) B-100
T1416 252-281 disease:C0745103 denotes familial hypercholesterolemia
T1417 283-285 disease:C0745103 denotes FH
T1418 338-341 gene:338 denotes FDB
R1 T1415 T1416 associated_with apo) B-100,familial hypercholesterolemia
R2 T1415 T1416 associated_with apo) B-100,familial hypercholesterolemia
R3 T1415 T1417 associated_with apo) B-100,FH
R4 T1415 T1417 associated_with apo) B-100,FH
R5 T1418 T1416 associated_with FDB,familial hypercholesterolemia
R6 T1418 T1416 associated_with FDB,familial hypercholesterolemia
R7 T1418 T1417 associated_with FDB,FH
R8 T1418 T1417 associated_with FDB,FH

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 389-404 http://purl.obolibrary.org/obo/UBERON_0001621 denotes coronary artery
PD-UBERON-AE-B_T2 398-404 http://purl.obolibrary.org/obo/UBERON_0001637 denotes artery

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 389-404 http://purl.obolibrary.org/obo/UBERON_0001621 denotes coronary artery
PD-UBERON-AE-B_T2 398-404 http://purl.obolibrary.org/obo/UBERON_0001637 denotes artery

DisGeNET

Id Subject Object Predicate Lexical cue
T0 326-336 gene:338 denotes apo) B-100
T1 252-281 disease:C0020445 denotes familial hypercholesterolemia
T2 326-336 gene:338 denotes apo) B-100
T3 283-285 disease:C0020445 denotes FH
T4 338-341 gene:338 denotes FDB
T5 252-281 disease:C0020445 denotes familial hypercholesterolemia
T6 338-341 gene:338 denotes FDB
T7 283-285 disease:C0020445 denotes FH
R1 T0 T1 associated_with apo) B-100,familial hypercholesterolemia
R2 T2 T3 associated_with apo) B-100,FH
R3 T4 T5 associated_with FDB,familial hypercholesterolemia
R4 T6 T7 associated_with FDB,FH