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PubMed:9028321 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 287-292 gene:355 denotes Apo-1
T1 444-483 disease:C1328840 denotes autoimmune lymphoproliferative syndrome
T2 287-292 gene:355 denotes Apo-1
T3 485-489 disease:C1328840 denotes ALPS
T4 544-547 gene:355 denotes Fas
T5 444-483 disease:C1328840 denotes autoimmune lymphoproliferative syndrome
T6 544-547 gene:2194 denotes Fas
T7 444-483 disease:C1328840 denotes autoimmune lymphoproliferative syndrome
T8 544-547 gene:355 denotes Fas
T9 485-489 disease:C1328840 denotes ALPS
T10 544-547 gene:2194 denotes Fas
T11 485-489 disease:C1328840 denotes ALPS
R1 T0 T1 associated_with Apo-1,autoimmune lymphoproliferative syndrome
R2 T2 T3 associated_with Apo-1,ALPS
R3 T4 T5 associated_with Fas,autoimmune lymphoproliferative syndrome
R4 T6 T7 associated_with Fas,autoimmune lymphoproliferative syndrome
R5 T8 T9 associated_with Fas,ALPS
R6 T10 T11 associated_with Fas,ALPS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
9028321-0#26#29#gene355 26-29 gene355 denotes Fas
9028321-0#48#87#diseaseC1328840 48-87 diseaseC1328840 denotes autoimmune lymphoproliferative syndrome
26#29#gene35548#87#diseaseC1328840 9028321-0#26#29#gene355 9028321-0#48#87#diseaseC1328840 associated_with Fas,autoimmune lymphoproliferative syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1169-1174 http://purl.obolibrary.org/obo/UBERON_0001977 denotes serum
PD-UBERON-AE-B_T2 264-277 http://purl.obolibrary.org/obo/UBERON_0002405 denotes immune system

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-128 Sentence denotes Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.
TextSentencer_T2 129-278 Sentence denotes Programmed cell death (or apoptosis) is a physiological process essential to the normal development and homeostatic maintenance of the immune system.
TextSentencer_T3 279-553 Sentence denotes The Fas/Apo-1 receptor plays a crucial role in the regulation of apoptosis, as demonstrated by lymphoproliferation in MRL-lpr/lpr mice and by the recently described autoimmune lymphoproliferative syndrome (ALPS) in humans, both of which are due to mutations in the Fas gene.
TextSentencer_T4 554-730 Sentence denotes We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis.
TextSentencer_T5 731-875 Sentence denotes The children share common clinical features including splenomegaly and lymphadenopathy, but only one developed severe autoimmune manifestations.
TextSentencer_T6 876-1267 Sentence denotes In all three siblings, we demonstrated the presence of anergic CD3+CD4-CD8- (double negative, [DN]) T cells; moreover, a chronic lymphocyte activation was found, as demonstrated by the presence of high levels of HLA-DR expression on peripheral CD3+ cells and by the presence of high levels of serum activation markers such as soluble interleukin-2 receptor (slL-2R) and soluble CD30 (sCD30).
T1 0-128 Sentence denotes Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.
T2 129-278 Sentence denotes Programmed cell death (or apoptosis) is a physiological process essential to the normal development and homeostatic maintenance of the immune system.
T3 279-553 Sentence denotes The Fas/Apo-1 receptor plays a crucial role in the regulation of apoptosis, as demonstrated by lymphoproliferation in MRL-lpr/lpr mice and by the recently described autoimmune lymphoproliferative syndrome (ALPS) in humans, both of which are due to mutations in the Fas gene.
T4 554-730 Sentence denotes We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis.
T5 731-875 Sentence denotes The children share common clinical features including splenomegaly and lymphadenopathy, but only one developed severe autoimmune manifestations.
T6 876-1267 Sentence denotes In all three siblings, we demonstrated the presence of anergic CD3+CD4-CD8- (double negative, [DN]) T cells; moreover, a chronic lymphocyte activation was found, as demonstrated by the presence of high levels of HLA-DR expression on peripheral CD3+ cells and by the presence of high levels of serum activation markers such as soluble interleukin-2 receptor (slL-2R) and soluble CD30 (sCD30).

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 785-797 HP:0001744 denotes splenomegaly
AB2 802-817 HP:0002716 denotes lymphadenopathy

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 264-277 http://purl.obolibrary.org/obo/UBERON_0002405 denotes immune system
PD-UBERON-AE-B_T2 1169-1174 http://purl.obolibrary.org/obo/UBERON_0001977 denotes serum

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 48-87 ORDO:3261 denotes autoimmune lymphoproliferative syndrome
AB1 444-483 ORDO:3261 denotes autoimmune lymphoproliferative syndrome
AB2 485-489 ORDO:3261 denotes ALPS
AB3 586-590 ORDO:3261 denotes ALPS

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease:D056735 denotes autoimmune lymphoproliferative syndrome
T2 444-483 SpecificDisease:D056735 denotes autoimmune lymphoproliferative syndrome
T3 485-489 SpecificDisease:D056735 denotes ALPS
T4 586-590 SpecificDisease:D056735 denotes ALPS
T5 785-797 DiseaseClass:D013163 denotes splenomegaly
T6 802-817 DiseaseClass:D008206 denotes lymphadenopathy
T7 849-874 DiseaseClass:D001327 denotes autoimmune manifestations

ncbi-valid-gpt-r-ng

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 374-393 DiseaseClass denotes lymphoproliferation
T3 444-490 CompositeMention denotes autoimmune lymphoproliferative syndrome (ALPS)
T4 586-590 SpecificDisease denotes ALPS
T5 785-797 SpecificDisease denotes splenomegaly
T6 802-817 SpecificDisease denotes lymphadenopathy
T7 842-848 Modifier denotes severe
T8 849-874 DiseaseClass denotes autoimmune manifestations

ncbi-valid-gpt-r-g

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T3 485-489 SpecificDisease denotes ALPS
T4 586-590 SpecificDisease denotes ALPS
T5 785-797 SpecificDisease denotes splenomegaly
T6 802-817 SpecificDisease denotes lymphadenopathy

ncbi-valid-gpt-nr-g

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T3 485-489 SpecificDisease denotes ALPS
T4 586-590 SpecificDisease denotes ALPS
T5 785-797 SpecificDisease denotes splenomegaly
T6 802-817 SpecificDisease denotes lymphadenopathy

ncbi-valid

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T3 485-489 SpecificDisease denotes ALPS
T4 586-590 SpecificDisease denotes ALPS
T5 785-797 DiseaseClass denotes splenomegaly
T6 802-817 DiseaseClass denotes lymphadenopathy
T7 849-874 DiseaseClass denotes autoimmune manifestations

ncbi-valid-gemini-r-g

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 374-393 DiseaseClass denotes lymphoproliferation
T3 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T4 485-489 SpecificDisease denotes ALPS
T5 785-797 DiseaseClass denotes splenomegaly
T6 802-817 DiseaseClass denotes lymphadenopathy

ncbi-valid-gpt-nr-ng

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 374-393 DiseaseClass denotes lymphoproliferation
T3 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T4 485-489 SpecificDisease denotes ALPS
T5 586-590 SpecificDisease denotes ALPS
T6 785-817 CompositeMention denotes splenomegaly and lymphadenopathy
T7 842-848 Modifier denotes severe
T8 849-874 DiseaseClass denotes autoimmune manifestations
T9 997-1004 Modifier denotes chronic

ncbi-valid-gemini-nr-g

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 374-393 DiseaseClass denotes lymphoproliferation
T3 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T4 485-489 SpecificDisease denotes ALPS
T5 785-797 SpecificDisease denotes splenomegaly
T6 802-817 SpecificDisease denotes lymphadenopathy
T7 842-874 DiseaseClass denotes severe autoimmune manifestations

ncbi-valid-gemini-nr-ng

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 374-393 SpecificDisease denotes lymphoproliferation
T3 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T4 485-489 SpecificDisease denotes ALPS
T5 842-874 DiseaseClass denotes severe autoimmune manifestations
T6 976-983 DiseaseClass denotes T cells

ncbi-valid-deepseek-nr-ng

Id Subject Object Predicate Lexical cue
T1 0-18 Modifier denotes Missense mutations
T2 26-34 CompositeMention denotes Fas gene
T3 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T4 155-164 DiseaseClass denotes apoptosis
T5 283-301 CompositeMention denotes Fas/Apo-1 receptor
T6 374-393 DiseaseClass denotes lymphoproliferation
T7 397-413 CompositeMention denotes MRL-lpr/lpr mice
T8 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T9 485-489 SpecificDisease denotes ALPS
T10 544-552 CompositeMention denotes Fas gene
T11 643-661 Modifier denotes missense mutations
T12 720-729 DiseaseClass denotes apoptosis
T13 785-797 DiseaseClass denotes splenomegaly
T14 802-817 DiseaseClass denotes lymphadenopathy
T15 849-874 DiseaseClass denotes autoimmune manifestations
T16 931-942 CompositeMention denotes anergic CD3
T17 942-946 CompositeMention denotes +CD4
T18 946-950 CompositeMention denotes -CD8
T19 950-968 CompositeMention denotes - (double negative
T20 976-983 CompositeMention denotes T cells
T21 997-1026 DiseaseClass denotes chronic lymphocyte activation
T22 1088-1094 CompositeMention denotes HLA-DR
T23 1120-1123 CompositeMention denotes CD3
T24 1202-1232 CompositeMention denotes soluble interleukin-2 receptor
T25 1234-1240 CompositeMention denotes slL-2R
T26 1246-1258 CompositeMention denotes soluble CD30
T27 1260-1265 CompositeMention denotes sCD30

ncbi-valid-deepseek-nr-g

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T3 485-489 SpecificDisease denotes ALPS

ncbi-valid-deepseek-r-g

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T3 485-489 SpecificDisease denotes ALPS
T4 586-590 SpecificDisease denotes ALPS

ncbi-valid-deepseek-r-ng

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 374-393 DiseaseClass denotes lymphoproliferation
T3 485-489 SpecificDisease denotes ALPS
T4 785-797 SpecificDisease denotes splenomegaly
T5 802-817 SpecificDisease denotes lymphadenopathy
T6 849-874 DiseaseClass denotes autoimmune manifestations

ncbi-valid-gemini-r-ng

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 374-393 SpecificDisease denotes lymphoproliferation
T3 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T4 485-489 SpecificDisease denotes ALPS
T5 785-797 SpecificDisease denotes splenomegaly
T6 802-817 SpecificDisease denotes lymphadenopathy
T7 849-874 DiseaseClass denotes autoimmune manifestations

ncbi-valid-gemini-r-m

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 374-393 DiseaseClass denotes lymphoproliferation
T3 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T4 485-489 SpecificDisease denotes ALPS
T5 785-797 SpecificDisease denotes splenomegaly
T6 802-817 SpecificDisease denotes lymphadenopathy

ncbi-valid-gpt-r-m

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T3 485-489 SpecificDisease denotes ALPS
T4 586-590 SpecificDisease denotes ALPS
T5 785-797 DiseaseClass denotes splenomegaly
T6 802-817 DiseaseClass denotes lymphadenopathy

ncbi-valid-deepseek-r-m

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T3 485-489 SpecificDisease denotes ALPS
T4 586-590 SpecificDisease denotes ALPS

NCBI-Disease-Develop

Id Subject Object Predicate Lexical cue database_id
T417 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome D056735
T418 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome D056735
T419 485-489 SpecificDisease denotes ALPS D056735
T420 586-590 SpecificDisease denotes ALPS D056735
T421 785-797 DiseaseClass denotes splenomegaly D013163
T422 802-817 DiseaseClass denotes lymphadenopathy D008206
T423 849-874 DiseaseClass denotes autoimmune manifestations D001327

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T417 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome D056735
T418 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome D056735
T419 485-489 SpecificDisease denotes ALPS D056735
T420 586-590 SpecificDisease denotes ALPS D056735
T421 785-797 DiseaseClass denotes splenomegaly D013163
T422 802-817 DiseaseClass denotes lymphadenopathy D008206
T423 849-874 DiseaseClass denotes autoimmune manifestations D001327

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 374-393 SpecificDisease denotes lymphoproliferation
T3 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T4 485-489 SpecificDisease denotes ALPS
T5 586-590 SpecificDisease denotes ALPS
T6 802-817 SpecificDisease denotes lymphadenopathy

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 374-393 DiseaseClass denotes lymphoproliferation
T3 444-483 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T4 586-590 SpecificDisease denotes ALPS
T5 785-797 SpecificDisease denotes splenomegaly
T6 802-817 SpecificDisease denotes lymphadenopathy
T7 849-874 DiseaseClass denotes autoimmune manifestations

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 444-490 SpecificDisease denotes autoimmune lymphoproliferative syndrome (ALPS)
T3 586-590 SpecificDisease denotes ALPS

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 48-87 SpecificDisease denotes autoimmune lymphoproliferative syndrome
T2 155-164 DiseaseClass denotes apoptosis
T3 344-353 DiseaseClass denotes apoptosis
T4 374-393 DiseaseClass denotes lymphoproliferation
T5 444-490 SpecificDisease denotes autoimmune lymphoproliferative syndrome (ALPS)
T6 586-590 SpecificDisease denotes ALPS
T7 720-729 DiseaseClass denotes apoptosis
T8 785-797 Modifier denotes splenomegaly
T9 802-817 Modifier denotes lymphadenopathy
T10 849-874 CompositeMention denotes autoimmune manifestations