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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-155 Sentence denotes Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
TextSentencer_T2 156-318 Sentence denotes We describe two female monozygotic (MZ) twins heterozygous for Fabry disease, an X linked disorder resulting from the deficient activity of alpha-galactosidase A.
TextSentencer_T3 319-394 Sentence denotes While one of the twins was clinically affected, the other was asymptomatic.
TextSentencer_T4 395-702 Sentence denotes Enzymatic assay of alpha-galactosidase in blood leucocytes, skin fibroblasts, Epstein-Barr virus transformed lymphoid cell lines, and hair follicles of the twins and their parents confirmed the heterozygous status of the twins and indicated that Fabry disease had occurred as a result of a de novo mutation.
TextSentencer_T5 703-768 Sentence denotes The son of the unaffected twin sister was shown to be hemizygous.
TextSentencer_T6 769-972 Sentence denotes Molecular analysis of the alpha-galactosidase A gene permitted the identification of an as yet undescribed point mutation at position 10182 of exon 5 which causes an Asp to Asn substitution at codon 231.
TextSentencer_T7 973-1117 Sentence denotes Single strand conformation polymorphism (SSCP) analysis again showed the heterozygous status of the twins and a normal pattern in their parents.
TextSentencer_T8 1118-1252 Sentence denotes The basis for the discordant expression of this d novo mutation in the twins was investigated by studying their X inactivation status.
TextSentencer_T9 1253-1415 Sentence denotes Analysis of the inactive X specific methylation at the androgen receptor gene showed unbalanced inactivation in the twins' fibroblasts and in opposite directions.
TextSentencer_T10 1416-1615 Sentence denotes While the maternally derived X chromosome was preferentially active in the asymptomatic twin, the paternal X chromosome was active in the other, affected twin and was found in her hemizygotic nephew.
TextSentencer_T11 1616-1833 Sentence denotes These data suggest that the paternal X chromosome carries the de novo alpha-galactosidase A mutation and that uneven X inactivation is the underlying mechanism for disease expression in this novel female MZ twin pair.
TextSentencer_T12 1834-1913 Sentence denotes This is the first documented case of female twins discordant for Fabry disease.
T1 0-155 Sentence denotes Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
T2 156-318 Sentence denotes We describe two female monozygotic (MZ) twins heterozygous for Fabry disease, an X linked disorder resulting from the deficient activity of alpha-galactosidase A.
T3 319-394 Sentence denotes While one of the twins was clinically affected, the other was asymptomatic.
T4 395-702 Sentence denotes Enzymatic assay of alpha-galactosidase in blood leucocytes, skin fibroblasts, Epstein-Barr virus transformed lymphoid cell lines, and hair follicles of the twins and their parents confirmed the heterozygous status of the twins and indicated that Fabry disease had occurred as a result of a de novo mutation.
T5 703-768 Sentence denotes The son of the unaffected twin sister was shown to be hemizygous.
T6 769-972 Sentence denotes Molecular analysis of the alpha-galactosidase A gene permitted the identification of an as yet undescribed point mutation at position 10182 of exon 5 which causes an Asp to Asn substitution at codon 231.
T7 973-1117 Sentence denotes Single strand conformation polymorphism (SSCP) analysis again showed the heterozygous status of the twins and a normal pattern in their parents.
T8 1118-1252 Sentence denotes The basis for the discordant expression of this d novo mutation in the twins was investigated by studying their X inactivation status.
T9 1253-1415 Sentence denotes Analysis of the inactive X specific methylation at the androgen receptor gene showed unbalanced inactivation in the twins' fibroblasts and in opposite directions.
T10 1416-1615 Sentence denotes While the maternally derived X chromosome was preferentially active in the asymptomatic twin, the paternal X chromosome was active in the other, affected twin and was found in her hemizygotic nephew.
T11 1616-1833 Sentence denotes These data suggest that the paternal X chromosome carries the de novo alpha-galactosidase A mutation and that uneven X inactivation is the underlying mechanism for disease expression in this novel female MZ twin pair.
T12 1834-1913 Sentence denotes This is the first documented case of female twins discordant for Fabry disease.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 128-149 gene:2717 denotes alpha-galactosidase A
T1 61-74 disease:C0002986 denotes Fabry disease
R1 T0 T1 associated_with alpha-galactosidase A,Fabry disease

jnlpba-st-training

Id Subject Object Predicate Lexical cue
T1 7-8 DNA denotes X
T2 128-154 DNA denotes alpha-galactosidase A gene
T3 296-317 protein denotes alpha-galactosidase A
T4 414-433 protein denotes alpha-galactosidase
T5 437-453 cell_type denotes blood leucocytes
T6 455-471 cell_type denotes skin fibroblasts
T7 473-523 cell_line denotes Epstein-Barr virus transformed lymphoid cell lines
T8 795-821 DNA denotes alpha-galactosidase A gene
T9 894-918 DNA denotes position 10182 of exon 5
T10 962-971 DNA denotes codon 231
T11 1269-1279 DNA denotes inactive X
T12 1308-1330 DNA denotes androgen receptor gene
T13 1426-1457 DNA denotes maternally derived X chromosome
T14 1514-1535 DNA denotes paternal X chromosome
T15 1644-1665 DNA denotes paternal X chromosome
T16 1686-1707 protein denotes alpha-galactosidase A

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8863162-0#128#149#gene2717 128-149 gene2717 denotes alpha-galactosidase A
8863162-0#61#74#diseaseC0002986 61-74 diseaseC0002986 denotes Fabry disease
128#149#gene271761#74#diseaseC0002986 8863162-0#128#149#gene2717 8863162-0#61#74#diseaseC0002986 associated_with alpha-galactosidase A,Fabry disease

pubmed-sentences-benchmark

Id Subject Object Predicate Lexical cue
S1 0-155 Sentence denotes Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
S2 156-318 Sentence denotes We describe two female monozygotic (MZ) twins heterozygous for Fabry disease, an X linked disorder resulting from the deficient activity of alpha-galactosidase A.
S3 319-394 Sentence denotes While one of the twins was clinically affected, the other was asymptomatic.
S4 395-702 Sentence denotes Enzymatic assay of alpha-galactosidase in blood leucocytes, skin fibroblasts, Epstein-Barr virus transformed lymphoid cell lines, and hair follicles of the twins and their parents confirmed the heterozygous status of the twins and indicated that Fabry disease had occurred as a result of a de novo mutation.
S5 703-768 Sentence denotes The son of the unaffected twin sister was shown to be hemizygous.
S6 769-972 Sentence denotes Molecular analysis of the alpha-galactosidase A gene permitted the identification of an as yet undescribed point mutation at position 10182 of exon 5 which causes an Asp to Asn substitution at codon 231.
S7 973-1117 Sentence denotes Single strand conformation polymorphism (SSCP) analysis again showed the heterozygous status of the twins and a normal pattern in their parents.
S8 1118-1252 Sentence denotes The basis for the discordant expression of this d novo mutation in the twins was investigated by studying their X inactivation status.
S9 1253-1415 Sentence denotes Analysis of the inactive X specific methylation at the androgen receptor gene showed unbalanced inactivation in the twins' fibroblasts and in opposite directions.
S10 1416-1615 Sentence denotes While the maternally derived X chromosome was preferentially active in the asymptomatic twin, the paternal X chromosome was active in the other, affected twin and was found in her hemizygotic nephew.
S11 1616-1833 Sentence denotes These data suggest that the paternal X chromosome carries the de novo alpha-galactosidase A mutation and that uneven X inactivation is the underlying mechanism for disease expression in this novel female MZ twin pair.
S12 1834-1913 Sentence denotes This is the first documented case of female twins discordant for Fabry disease.

genia-medco-coref

Id Subject Object Predicate Lexical cue
C2 61-74 NP denotes Fabry disease
C1 25-74 NP denotes a female monozygotic twin pair with Fabry disease
C5 124-154 NP denotes the alpha-galactosidase A gene
C3 219-232 NP denotes Fabry disease
C4 168-232 NP denotes two female monozygotic (MZ) twins heterozygous for Fabry disease
C6 296-317 NP denotes alpha-galactosidase A
C7 332-341 NP denotes the twins
C8 325-341 NP denotes one of the twins
C9 367-376 NP denotes the other
C10 547-556 NP denotes the twins
C21 561-566 NP denotes their
C11 561-574 NP denotes their parents
C12 612-621 NP denotes the twins
C18 585-621 NP denotes the heterozygous status of the twins
C13 641-654 NP denotes Fabry disease
C14 791-821 NP denotes the alpha-galactosidase A gene
C15 894-918 NP denotes position 10182 of exon 5
C16 919-924 NP denotes which
C17 1069-1078 NP denotes the twins
C19 1042-1078 NP denotes the heterozygous status of the twins
C22 1103-1108 NP denotes their
C20 1103-1116 NP denotes their parents
C23 1185-1194 NP denotes the twins
C24 1224-1229 NP denotes their
C25 1365-1375 NP denotes the twins'
C26 1487-1508 NP denotes the asymptomatic twin
C30 1510-1535 NP denotes the paternal X chromosome
C28 1550-1574 NP denotes the other, affected twin
C29 1592-1595 NP denotes her
C31 1640-1665 NP denotes the paternal X chromosome
C32 1802-1832 NP denotes this novel female MZ twin pair
C34 1834-1838 NP denotes This
C33 1899-1912 NP denotes Fabry disease
C35 1842-1912 NP denotes the first documented case of female twins discordant for Fabry disease
R1 C3 C2 coref-ident Fabry disease,Fabry disease
R2 C4 C1 coref-ident two female monozygotic (MZ) twins heterozygous for Fabry disease,a female monozygotic twin pair with Fabry disease
R3 C6 C5 coref-ident alpha-galactosidase A,the alpha-galactosidase A gene
R4 C7 C4 coref-ident the twins,two female monozygotic (MZ) twins heterozygous for Fabry disease
R5 C8 C4 coref-part-whole one of the twins,two female monozygotic (MZ) twins heterozygous for Fabry disease
R6 C9 C4 coref-part-whole the other,two female monozygotic (MZ) twins heterozygous for Fabry disease
R7 C10 C7 coref-ident the twins,the twins
R8 C21 C10 coref-pron their,the twins
R9 C12 C10 coref-ident the twins,the twins
R10 C13 C3 coref-ident Fabry disease,Fabry disease
R11 C14 C5 coref-ident the alpha-galactosidase A gene,the alpha-galactosidase A gene
R12 C16 C15 coref-relat which,position 10182 of exon 5
R13 C17 C12 coref-ident the twins,the twins
R14 C19 C18 coref-ident the heterozygous status of the twins,the heterozygous status of the twins
R15 C22 C17 coref-pron their,the twins
R16 C20 C11 coref-ident their parents,their parents
R17 C23 C17 coref-ident the twins,the twins
R18 C24 C23 coref-pron their,the twins
R19 C25 C23 coref-ident the twins',the twins
R20 C26 C9 coref-ident the asymptomatic twin,the other
R21 C28 C8 coref-ident "the other, affected twin",one of the twins
R22 C29 C28 coref-pron her,"the other, affected twin"
R23 C31 C30 coref-ident the paternal X chromosome,the paternal X chromosome
R24 C32 C1 coref-ident this novel female MZ twin pair,a female monozygotic twin pair with Fabry disease
R25 C33 C13 coref-ident Fabry disease,Fabry disease
R26 C35 C34 coref-ident the first documented case of female twins discordant for Fabry disease,This

GENIAcorpus

Id Subject Object Predicate Lexical cue
T1 7-8 DNA_molecule denotes X
T2 27-55 multi_cell denotes female monozygotic twin pair
T3 61-74 other_name denotes Fabry disease
T4 106-120 other_name denotes novel mutation
T5 128-154 DNA_domain_or_region denotes alpha-galactosidase A gene
T6 168-201 multi_cell denotes two female monozygotic (MZ) twins
T7 219-232 other_name denotes Fabry disease
T8 237-254 other_name denotes X linked disorder
T9 296-317 protein_molecule denotes alpha-galactosidase A
T10 336-341 multi_cell denotes twins
T11 414-433 protein_molecule denotes alpha-galactosidase
T12 437-453 cell_type denotes blood leucocytes
T13 455-471 cell_type denotes skin fibroblasts
T14 473-491 virus denotes Epstein-Barr virus
T15 529-543 tissue denotes hair follicles
T16 551-556 multi_cell denotes twins
T17 567-574 multi_cell denotes parents
T18 589-608 other_name denotes heterozygous status
T19 616-621 multi_cell denotes twins
T20 641-654 other_name denotes Fabry disease
T21 795-814 protein_molecule denotes alpha-galactosidase
T22 894-908 DNA_domain_or_region denotes position 10182
T23 912-918 DNA_domain_or_region denotes exon 5
T24 935-938 amino_acid_monomer denotes Asp
T25 942-945 amino_acid_monomer denotes Asn
T26 962-971 DNA_domain_or_region denotes codon 231
T27 973-1028 other_name denotes Single strand conformation polymorphism (SSCP) analysis
T28 1046-1065 other_name denotes heterozygous status
T29 1073-1078 multi_cell denotes twins
T30 1085-1099 other_name denotes normal pattern
T31 1109-1116 multi_cell denotes parents
T32 1136-1157 other_name denotes discordant expression
T33 1166-1181 other_name denotes d novo mutation
T34 1189-1194 multi_cell denotes twins
T35 1230-1244 other_name denotes X inactivation
T36 1269-1279 DNA_molecule denotes inactive X
T37 1308-1330 DNA_domain_or_region denotes androgen receptor gene
T38 1369-1374 multi_cell denotes twins
T39 1426-1444 DNA_molecule denotes maternally derived
T40 1445-1457 DNA_molecule denotes X chromosome
T41 1491-1508 multi_cell denotes asymptomatic twin
T42 1514-1522 DNA_molecule denotes paternal
T43 1523-1535 DNA_molecule denotes X chromosome
T44 1596-1614 multi_cell denotes hemizygotic nephew
T45 1644-1652 DNA_molecule denotes paternal
T46 1653-1665 DNA_molecule denotes X chromosome
T47 1686-1705 protein_molecule denotes alpha-galactosidase
T48 1733-1747 other_name denotes X inactivation
T49 1780-1798 other_name denotes disease expression
T50 1807-1832 multi_cell denotes novel female MZ twin pair
T51 1878-1883 multi_cell denotes twins
T52 1899-1912 other_name denotes Fabry disease

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 437-442 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T2 529-543 http://purl.obolibrary.org/obo/UBERON_0002073 denotes hair follicles

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 61-74 ORDO:324 denotes Fabry disease
AB1 219-232 ORDO:324 denotes Fabry disease
AB2 641-654 ORDO:324 denotes Fabry disease
AB3 935-938 ORDO:63442 denotes Asp
AB4 1899-1912 ORDO:324 denotes Fabry disease

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 437-442 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T2 529-543 http://purl.obolibrary.org/obo/UBERON_0002073 denotes hair follicles