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NCBI-Disease-Corpus-GPT5-withguidelines

Id Subject Object Predicate Lexical cue
T1 133-153 DiseaseClass denotes G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 304-307 SpecificDisease denotes TSD
T4 338-366 SpecificDisease denotes G(M2) gangliosidosis, Type 1
T5 734-754 DiseaseClass denotes G(M2) gangliosidosis
T6 1465-1468 SpecificDisease denotes TSD
T7 1671-1694 SpecificDisease denotes Hex A enzyme deficiency
T8 1909-1925 SpecificDisease denotes Hex A deficiency

NCBI-Disease-Corpus-GPT5-noguidelines

Id Subject Object Predicate Lexical cue
T1 124-153 CompositeMention denotes subacute G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 304-307 SpecificDisease denotes TSD
T4 314-319 Modifier denotes fatal
T5 320-329 Modifier denotes infantile
T6 338-366 SpecificDisease denotes G(M2) gangliosidosis, Type 1
T7 381-389 Modifier denotes subacute
T8 391-405 Modifier denotes juvenile-onset
T9 411-418 Modifier denotes chronic
T10 420-431 Modifier denotes adult-onset
T11 714-754 CompositeMention denotes subacute variant of G(M2) gangliosidosis
T12 1455-1468 CompositeMention denotes infantile TSD
T13 1671-1694 SpecificDisease denotes Hex A enzyme deficiency
T14 1909-1925 SpecificDisease denotes Hex A deficiency

NCBI-Disease-Corpus-GPT5-guidelineprompt

Id Subject Object Predicate Lexical cue
T1 124-153 DiseaseClass denotes subacute G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 304-307 SpecificDisease denotes TSD
T4 338-366 SpecificDisease denotes G(M2) gangliosidosis, Type 1
T5 714-754 DiseaseClass denotes subacute variant of G(M2) gangliosidosis
T6 1465-1468 SpecificDisease denotes TSD
T7 1671-1694 SpecificDisease denotes Hex A enzyme deficiency
T8 1909-1925 SpecificDisease denotes Hex A deficiency

NCBI-Disease-Corpus-Moderated1

Id Subject Object Predicate Lexical cue
T1 124-153 DiseaseClass denotes subacute G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 304-307 SpecificDisease denotes TSD
T4 338-366 SpecificDisease denotes G(M2) gangliosidosis, Type 1
T5 734-754 DiseaseClass denotes G(M2) gangliosidosis
T6 1455-1468 SpecificDisease denotes infantile TSD
T7 1671-1694 DiseaseClass denotes Hex A enzyme deficiency
T8 1909-1925 DiseaseClass denotes Hex A deficiency

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-154 Sentence denotes W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
TextSentencer_T2 155-367 Sentence denotes Mutations in the HEXA gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), that abolish Hex A enzyme activity cause Tay-Sachs disease (TSD), the fatal infantile form of G(M2) gangliosidosis, Type 1.
TextSentencer_T3 368-572 Sentence denotes Less severe, subacute (juvenile-onset) and chronic (adult-onset) variants are characterized by a broad spectrum of clinical manifestations and are associated with residual levels of Hex A enzyme activity.
TextSentencer_T4 573-755 Sentence denotes We identified a 1422 G-->C (amino acid W474C) substitution in the first position of exon 13 of HEXA of a non-Jewish proband who manifested a subacute variant of G(M2) gangliosidosis.
TextSentencer_T5 756-889 Sentence denotes On the second maternally inherited allele, we identified the common infantile disease-causing 4-bp insertion, +TATC 1278, in exon 11.
TextSentencer_T6 890-1114 Sentence denotes Pulse-chase analysis using proband fibroblasts revealed that the W474C-containing alpha-subunit precursor was normally synthesized, but not phosphorylated or secreted, and the mature lysosomal alpha-subunit was not detected.
TextSentencer_T7 1115-1469 Sentence denotes When the W474C-containing alpha-subunit was transiently co-expressed with the beta-subunit to produce Hex A (alphabeta) in COS-7 cells, the mature alpha-subunit was present, but its level was much lower than that from normal alpha-subunit transfections, although higher than in those cells transfected with an alpha-subunit associated with infantile TSD.
TextSentencer_T8 1470-1613 Sentence denotes Furthermore, the precursor level of the W474C alpha-subunit was found to accumulate in comparison to the normal alpha-subunit precursor levels.
TextSentencer_T9 1614-1710 Sentence denotes We conclude that the 1422 G-->C mutation is the cause of Hex A enzyme deficiency in the proband.
TextSentencer_T10 1711-1942 Sentence denotes The resulting W474C substitution clearly interferes with alpha-subunit processing, but because the base substitution falls at the first position of exon 13, aberrant splicing may also contribute to Hex A deficiency in this proband.
T1 0-154 Sentence denotes W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
T2 155-367 Sentence denotes Mutations in the HEXA gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), that abolish Hex A enzyme activity cause Tay-Sachs disease (TSD), the fatal infantile form of G(M2) gangliosidosis, Type 1.
T3 368-572 Sentence denotes Less severe, subacute (juvenile-onset) and chronic (adult-onset) variants are characterized by a broad spectrum of clinical manifestations and are associated with residual levels of Hex A enzyme activity.
T4 573-755 Sentence denotes We identified a 1422 G-->C (amino acid W474C) substitution in the first position of exon 13 of HEXA of a non-Jewish proband who manifested a subacute variant of G(M2) gangliosidosis.
T5 756-889 Sentence denotes On the second maternally inherited allele, we identified the common infantile disease-causing 4-bp insertion, +TATC 1278, in exon 11.
T6 890-1114 Sentence denotes Pulse-chase analysis using proband fibroblasts revealed that the W474C-containing alpha-subunit precursor was normally synthesized, but not phosphorylated or secreted, and the mature lysosomal alpha-subunit was not detected.
T7 1115-1469 Sentence denotes When the W474C-containing alpha-subunit was transiently co-expressed with the beta-subunit to produce Hex A (alphabeta) in COS-7 cells, the mature alpha-subunit was present, but its level was much lower than that from normal alpha-subunit transfections, although higher than in those cells transfected with an alpha-subunit associated with infantile TSD.
T8 1470-1613 Sentence denotes Furthermore, the precursor level of the W474C alpha-subunit was found to accumulate in comparison to the normal alpha-subunit precursor levels.
T9 1614-1710 Sentence denotes We conclude that the 1422 G-->C mutation is the cause of Hex A enzyme deficiency in the proband.
T10 1711-1942 Sentence denotes The resulting W474C substitution clearly interferes with alpha-subunit processing, but because the base substitution falls at the first position of exon 13, aberrant splicing may also contribute to Hex A deficiency in this proband.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 79-98 gene:10724 denotes beta-hexosaminidase
T1 139-153 disease:C0017083 denotes gangliosidosis
T2 172-176 gene:3073 denotes HEXA
T3 285-302 disease:C0039373 denotes Tay-Sachs disease
T4 213-232 gene:10724 denotes beta-hexosaminidase
T5 285-302 disease:C0039373 denotes Tay-Sachs disease
T6 213-232 gene:10724 denotes beta-hexosaminidase
T7 344-358 disease:C0017083 denotes gangliosidosis
T8 213-232 gene:10724 denotes beta-hexosaminidase
T9 304-307 disease:C0039373 denotes TSD
T10 668-672 gene:3073 denotes HEXA
T11 740-754 disease:C0017083 denotes gangliosidosis
R1 T0 T1 associated_with beta-hexosaminidase,gangliosidosis
R2 T2 T3 associated_with HEXA,Tay-Sachs disease
R3 T4 T5 associated_with beta-hexosaminidase,Tay-Sachs disease
R4 T6 T7 associated_with beta-hexosaminidase,gangliosidosis
R5 T8 T9 associated_with beta-hexosaminidase,TSD
R6 T10 T11 associated_with HEXA,gangliosidosis

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
9603435-0#0#5#geners121907981 0-5 geners121907981 denotes W474C
9603435-0#139#153#diseaseC0017083 139-153 diseaseC0017083 denotes gangliosidosis
9603435-6#9#14#geners121907981 1124-1129 geners121907981 denotes W474C
9603435-6#350#353#diseaseC0039373 1465-1468 diseaseC0039373 denotes TSD
0#5#geners121907981139#153#diseaseC0017083 9603435-0#0#5#geners121907981 9603435-0#139#153#diseaseC0017083 associated_with W474C,gangliosidosis
9#14#geners121907981350#353#diseaseC0039373 9603435-6#9#14#geners121907981 9603435-6#350#353#diseaseC0039373 associated_with W474C,TSD

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
9603435-0#79#98#gene10724 79-98 gene10724 denotes beta-hexosaminidase
9603435-0#139#153#diseaseC0017083 139-153 diseaseC0017083 denotes gangliosidosis
9603435-1#58#77#gene10724 213-232 gene10724 denotes beta-hexosaminidase
9603435-1#130#147#diseaseC0039373 285-302 diseaseC0039373 denotes Tay-Sachs disease
9603435-3#95#99#gene3073 668-672 gene3073 denotes HEXA
9603435-3#167#181#diseaseC0017083 740-754 diseaseC0017083 denotes gangliosidosis
79#98#gene10724139#153#diseaseC0017083 9603435-0#79#98#gene10724 9603435-0#139#153#diseaseC0017083 associated_with beta-hexosaminidase,gangliosidosis
58#77#gene10724130#147#diseaseC0039373 9603435-1#58#77#gene10724 9603435-1#130#147#diseaseC0039373 associated_with beta-hexosaminidase,Tay-Sachs disease
95#99#gene3073167#181#diseaseC0017083 9603435-3#95#99#gene3073 9603435-3#167#181#diseaseC0017083 associated_with HEXA,gangliosidosis

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 1828-1833 HP:0002527 denotes falls

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 285-302 ORDO:845 denotes Tay-Sachs disease

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 133-153 SpecificDisease:D020143 denotes G(M2) gangliosidosis
T2 285-302 SpecificDisease:D013661 denotes Tay-Sachs disease
T3 304-307 SpecificDisease:D013661 denotes TSD
T4 320-366 SpecificDisease:D020143 denotes infantile form of G(M2) gangliosidosis, Type 1
T5 734-754 SpecificDisease:D020143 denotes G(M2) gangliosidosis
T6 1465-1468 SpecificDisease:D013661 denotes TSD
T7 1671-1694 SpecificDisease:D013661 denotes Hex A enzyme deficiency
T8 1909-1925 SpecificDisease:D013661 denotes Hex A deficiency

NCBI-Disease-Test

Id Subject Object Predicate Lexical cue database_id
T464 133-153 SpecificDisease denotes G(M2) gangliosidosis D020143
T465 285-302 SpecificDisease denotes Tay-Sachs disease D013661
T466 304-307 SpecificDisease denotes TSD D013661
T467 320-366 SpecificDisease denotes infantile form of G(M2) gangliosidosis, Type 1 D020143
T468 734-754 SpecificDisease denotes G(M2) gangliosidosis D020143
T469 1465-1468 SpecificDisease denotes TSD D013661
T470 1671-1694 SpecificDisease denotes Hex A enzyme deficiency D013661
T471 1909-1925 SpecificDisease denotes Hex A deficiency D013661

NCBI-Disease-Test-Assistant-Knowledge

Id Subject Object Predicate Lexical cue
T1 124-153 CompositeMention denotes subacute G(M2) gangliosidosis
T2 285-308 SpecificDisease denotes Tay-Sachs disease (TSD)
T3 338-366 CompositeMention denotes G(M2) gangliosidosis, Type 1
T4 381-406 Modifier denotes subacute (juvenile-onset)
T5 411-432 Modifier denotes chronic (adult-onset)
T6 714-754 CompositeMention denotes subacute variant of G(M2) gangliosidosis
T7 1455-1468 SpecificDisease denotes infantile TSD

NCBI-Disease-Test-4o-NoGuidelineInPrompt

Id Subject Object Predicate Lexical cue
T1 133-153 SpecificDisease denotes G(M2) gangliosidosis
T2 285-308 SpecificDisease denotes Tay-Sachs disease (TSD)
T3 338-366 SpecificDisease denotes G(M2) gangliosidosis, Type 1
T4 381-406 Modifier denotes subacute (juvenile-onset)
T5 411-432 Modifier denotes chronic (adult-onset)
T6 714-730 Modifier denotes subacute variant
T7 734-754 SpecificDisease denotes G(M2) gangliosidosis
T8 824-849 Modifier denotes infantile disease-causing
T9 1455-1464 Modifier denotes infantile
T10 1465-1468 SpecificDisease denotes TSD

NCBI-Disease-Corpus-o3-2

Id Subject Object Predicate Lexical cue
T1 124-153 SpecificDisease denotes subacute G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 304-307 SpecificDisease denotes TSD
T4 314-366 SpecificDisease denotes fatal infantile form of G(M2) gangliosidosis, Type 1
T5 714-754 SpecificDisease denotes subacute variant of G(M2) gangliosidosis
T6 1455-1468 SpecificDisease denotes infantile TSD

NCBI-Disease-Corpus-high-o3-1

Id Subject Object Predicate Lexical cue
T1 124-153 SpecificDisease denotes subacute G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 303-308 SpecificDisease denotes (TSD)
T4 338-358 SpecificDisease denotes G(M2) gangliosidosis
T5 734-754 SpecificDisease denotes G(M2) gangliosidosis
T6 1455-1468 SpecificDisease denotes infantile TSD

NCBI-Disease-Corpus-high-o3-2

Id Subject Object Predicate Lexical cue
T1 124-153 SpecificDisease denotes subacute G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 304-307 SpecificDisease denotes TSD
T4 338-366 SpecificDisease denotes G(M2) gangliosidosis, Type 1
T5 714-754 SpecificDisease denotes subacute variant of G(M2) gangliosidosis
T6 1455-1468 SpecificDisease denotes infantile TSD

NCBI-Disease-Test-4o-GuidelineInPrompt

Id Subject Object Predicate Lexical cue
T1 133-153 SpecificDisease denotes G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 338-366 SpecificDisease denotes G(M2) gangliosidosis, Type 1
T4 734-754 SpecificDisease denotes G(M2) gangliosidosis
T5 1465-1468 SpecificDisease denotes TSD

NCBI-Disease-Corpus-UpdatedGuideline

Id Subject Object Predicate Lexical cue
T1 124-153 SpecificDisease denotes subacute G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 304-307 SpecificDisease denotes TSD
T4 338-366 SpecificDisease denotes G(M2) gangliosidosis, Type 1
T5 734-754 SpecificDisease denotes G(M2) gangliosidosis
T6 1465-1468 SpecificDisease denotes TSD

NCBI-Disease-Corpus-humanintheloop

Id Subject Object Predicate Lexical cue
T1 133-153 SpecificDisease denotes G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 304-307 SpecificDisease denotes TSD
T4 338-358 DiseaseClass denotes G(M2) gangliosidosis
T5 734-754 SpecificDisease denotes G(M2) gangliosidosis
T6 1465-1468 SpecificDisease denotes TSD

NCBI-Disease-Corpus-rezarta1

Id Subject Object Predicate Lexical cue
T1 133-153 DiseaseClass denotes G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 304-307 SpecificDisease denotes TSD
T4 338-366 DiseaseClass denotes G(M2) gangliosidosis, Type 1
T5 734-754 DiseaseClass denotes G(M2) gangliosidosis
T6 1465-1468 SpecificDisease denotes TSD

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T464 133-153 SpecificDisease denotes G(M2) gangliosidosis D020143
T465 285-302 SpecificDisease denotes Tay-Sachs disease D013661
T466 304-307 SpecificDisease denotes TSD D013661
T467 320-366 SpecificDisease denotes infantile form of G(M2) gangliosidosis, Type 1 D020143
T468 734-754 SpecificDisease denotes G(M2) gangliosidosis D020143
T469 1465-1468 SpecificDisease denotes TSD D013661
T470 1671-1694 SpecificDisease denotes Hex A enzyme deficiency D013661
T471 1909-1925 SpecificDisease denotes Hex A deficiency D013661

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 133-153 SpecificDisease denotes G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 304-307 SpecificDisease denotes TSD
T4 338-358 DiseaseClass denotes G(M2) gangliosidosis
T5 734-754 SpecificDisease denotes G(M2) gangliosidosis
T6 1465-1468 SpecificDisease denotes TSD

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 133-153 SpecificDisease denotes G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 304-307 SpecificDisease denotes TSD
T4 338-366 SpecificDisease denotes G(M2) gangliosidosis, Type 1
T5 734-754 SpecificDisease denotes G(M2) gangliosidosis
T6 1465-1468 SpecificDisease denotes TSD

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 133-153 SpecificDisease denotes G(M2) gangliosidosis
T2 285-308 SpecificDisease denotes Tay-Sachs disease (TSD)
T3 338-366 SpecificDisease denotes G(M2) gangliosidosis, Type 1
T4 734-754 SpecificDisease denotes G(M2) gangliosidosis

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 133-153 CompositeMention denotes G(M2) gangliosidosis
T2 172-176 SpecificDisease denotes HEXA
T3 285-308 SpecificDisease denotes Tay-Sachs disease (TSD)
T4 338-366 CompositeMention denotes G(M2) gangliosidosis, Type 1
T5 381-406 Modifier denotes subacute (juvenile-onset)
T6 411-432 Modifier denotes chronic (adult-onset)
T7 668-672 SpecificDisease denotes HEXA
T8 714-730 Modifier denotes subacute variant
T9 734-754 CompositeMention denotes G(M2) gangliosidosis
T10 1455-1464 Modifier denotes infantile
T11 1465-1468 SpecificDisease denotes TSD

123456

Id Subject Object Predicate Lexical cue
T1 133-153 SpecificDisease denotes G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 304-307 SpecificDisease denotes TSD
T4 338-358 DiseaseClass denotes G(M2) gangliosidosis
T5 734-754 SpecificDisease denotes G(M2) gangliosidosis
T6 1465-1468 SpecificDisease denotes TSD

12345

Id Subject Object Predicate Lexical cue
T1 133-153 DiseaseClass denotes G(M2) gangliosidosis
T2 285-302 SpecificDisease denotes Tay-Sachs disease
T3 304-307 SpecificDisease denotes TSD
T4 338-366 CompositeMention denotes G(M2) gangliosidosis, Type 1
T5 734-754 DiseaseClass denotes G(M2) gangliosidosis
T6 1465-1468 SpecificDisease denotes TSD