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PubMed:10709732 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-119 Sentence denotes Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?
TextSentencer_T2 120-292 Sentence denotes Autoimmune lymphoproliferative syndrome (ALPS) is characterized by autoimmune features and lymphoproliferations and is generally caused by defective Fas-mediated apoptosis.
TextSentencer_T3 293-425 Sentence denotes This report describes a child with clinical features of ALPS without detectable Fas expression on freshly isolated blood leukocytes.
TextSentencer_T4 426-532 Sentence denotes Detection of FAS transcripts via real-time quantitative PCR made a severe transcriptional defect unlikely.
TextSentencer_T5 533-657 Sentence denotes Sequencing of the FAS gene revealed a 20-nucleotide duplication in the last exon affecting the cytoplasmic signaling domain.
TextSentencer_T6 658-774 Sentence denotes The patient was homozygous for this mutation, whereas the consanguineous parents and the siblings were heterozygous.
TextSentencer_T7 775-974 Sentence denotes The patient reported here is a human homologue of the Fas-null mouse, inasmuch as she carries an autosomal homozygous mutation in the FAS gene and she shows the severe and accelerated ALPS phenotype.
TextSentencer_T8 975-1127 Sentence denotes The heterozygous family members did not have the ALPS phenotype, indicating that the disease-causing FAS mutation in this family is autosomal recessive.
T1 0-119 Sentence denotes Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?
T2 120-292 Sentence denotes Autoimmune lymphoproliferative syndrome (ALPS) is characterized by autoimmune features and lymphoproliferations and is generally caused by defective Fas-mediated apoptosis.
T3 293-425 Sentence denotes This report describes a child with clinical features of ALPS without detectable Fas expression on freshly isolated blood leukocytes.
T4 426-532 Sentence denotes Detection of FAS transcripts via real-time quantitative PCR made a severe transcriptional defect unlikely.
T5 533-657 Sentence denotes Sequencing of the FAS gene revealed a 20-nucleotide duplication in the last exon affecting the cytoplasmic signaling domain.
T6 658-774 Sentence denotes The patient was homozygous for this mutation, whereas the consanguineous parents and the siblings were heterozygous.
T7 775-974 Sentence denotes The patient reported here is a human homologue of the Fas-null mouse, inasmuch as she carries an autosomal homozygous mutation in the FAS gene and she shows the severe and accelerated ALPS phenotype.
T8 975-1127 Sentence denotes The heterozygous family members did not have the ALPS phenotype, indicating that the disease-causing FAS mutation in this family is autosomal recessive.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 120-130 HP_0002960 denotes Autoimmune
T2 187-197 HP_0002960 denotes autoimmune
T3 585-596 HP_0009609 denotes duplication
T4 1107-1126 HP_0000007 denotes autosomal recessive

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10709732-7#101#104#gene355 1076-1079 gene355 denotes FAS
10709732-7#49#53#diseaseC1328840 1024-1028 diseaseC1328840 denotes ALPS
101#104#gene35549#53#diseaseC1328840 10709732-7#101#104#gene355 10709732-7#49#53#diseaseC1328840 associated_with FAS,ALPS

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 408-413 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-39 ORDO:3261 denotes Autoimmune lymphoproliferative syndrome
AB1 161-165 ORDO:3261 denotes ALPS
AB2 349-353 ORDO:3261 denotes ALPS
AB3 959-963 ORDO:3261 denotes ALPS
AB4 1024-1028 ORDO:3261 denotes ALPS

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 408-413 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 0-39 SpecificDisease:D056735 denotes Autoimmune lymphoproliferative syndrome
T2 41-45 SpecificDisease:D056735 denotes ALPS
T3 120-159 SpecificDisease:D056735 denotes Autoimmune lymphoproliferative syndrome
T4 161-165 SpecificDisease:D056735 denotes ALPS
T5 349-353 SpecificDisease:D056735 denotes ALPS
T6 959-963 Modifier:D056735 denotes ALPS
T7 1024-1028 Modifier:D056735 denotes ALPS

DisGeNET

Id Subject Object Predicate Lexical cue
T0 909-912 gene:355 denotes FAS
T1 959-963 disease:C1328840 denotes ALPS
T2 909-912 gene:2194 denotes FAS
T3 959-963 disease:C1328840 denotes ALPS
T4 1076-1079 gene:355 denotes FAS
T5 1024-1028 disease:C1328840 denotes ALPS
T6 1076-1079 gene:2194 denotes FAS
T7 1024-1028 disease:C1328840 denotes ALPS
R1 T0 T1 associated_with FAS,ALPS
R2 T2 T3 associated_with FAS,ALPS
R3 T4 T5 associated_with FAS,ALPS
R4 T6 T7 associated_with FAS,ALPS

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T632 0-39 SpecificDisease denotes Autoimmune lymphoproliferative syndrome D056735
T633 41-45 SpecificDisease denotes ALPS D056735
T634 120-159 SpecificDisease denotes Autoimmune lymphoproliferative syndrome D056735
T635 161-165 SpecificDisease denotes ALPS D056735
T636 349-353 SpecificDisease denotes ALPS D056735
T637 959-963 Modifier denotes ALPS D056735
T638 1024-1028 Modifier denotes ALPS D056735

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T632 0-39 SpecificDisease denotes Autoimmune lymphoproliferative syndrome D056735
T633 41-45 SpecificDisease denotes ALPS D056735
T634 120-159 SpecificDisease denotes Autoimmune lymphoproliferative syndrome D056735
T635 161-165 SpecificDisease denotes ALPS D056735
T636 349-353 SpecificDisease denotes ALPS D056735
T637 959-963 Modifier denotes ALPS D056735
T638 1024-1028 Modifier denotes ALPS D056735

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 41-45 SpecificDisease denotes ALPS
T2 161-165 SpecificDisease denotes ALPS
T3 349-353 SpecificDisease denotes ALPS
T4 959-963 SpecificDisease denotes ALPS
T5 1024-1028 SpecificDisease denotes ALPS

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 41-45 SpecificDisease denotes ALPS
T2 161-165 SpecificDisease denotes ALPS
T3 349-353 SpecificDisease denotes ALPS
T4 959-963 SpecificDisease denotes ALPS
T5 1024-1028 SpecificDisease denotes ALPS

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 41-45 SpecificDisease denotes ALPS
T2 161-165 SpecificDisease denotes ALPS
T3 349-353 SpecificDisease denotes ALPS
T4 829-843 SpecificDisease denotes Fas-null mouse
T5 959-963 SpecificDisease denotes ALPS
T6 1024-1028 SpecificDisease denotes ALPS

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 0-39 SpecificDisease denotes Autoimmune lymphoproliferative syndrome
T2 111-118 DiseaseClass denotes disease
T3 120-159 SpecificDisease denotes Autoimmune lymphoproliferative syndrome
T4 187-197 Modifier denotes autoimmune
T5 211-231 CompositeMention denotes lymphoproliferations
T6 349-353 SpecificDisease denotes ALPS
T7 936-958 Modifier denotes severe and accelerated
T8 959-973 SpecificDisease denotes ALPS phenotype
T9 1024-1038 SpecificDisease denotes ALPS phenotype
T10 1060-1075 Modifier denotes disease-causing
T11 1107-1126 Modifier denotes autosomal recessive