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PubMed:10571943 JSONTXT

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PubmedHPO

Id Subject Object Predicate Lexical cue
T1 483-488 HP_0011088 denotes Denys

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10571943-0#54#57#gene791122 54-57 gene791122 denotes KTS
10571943-0#100#116#diseaseC0950122 100-116 diseaseC0950122 denotes Frasier syndrome
10571943-1#41#44#gene7490 159-162 gene7490 denotes WT1
10571943-1#137#153#diseaseC0950122 255-271 diseaseC0950122 denotes Frasier syndrome
10571943-1#155#157#diseaseC0950122 273-275 diseaseC0950122 denotes FS
10571943-3#66#69#gene7490 459-462 gene7490 denotes WT1
10571943-3#90#110#diseaseC0950121 483-503 diseaseC0950121 denotes Denys-Drash syndrome
10571943-3#112#115#diseaseC0950121 505-508 diseaseC0950121 denotes DDS
54#57#gene791122100#116#diseaseC0950122 10571943-0#54#57#gene791122 10571943-0#100#116#diseaseC0950122 associated_with KTS,Frasier syndrome
41#44#gene7490137#153#diseaseC0950122 10571943-1#41#44#gene7490 10571943-1#137#153#diseaseC0950122 associated_with WT1,Frasier syndrome
41#44#gene7490155#157#diseaseC0950122 10571943-1#41#44#gene7490 10571943-1#155#157#diseaseC0950122 associated_with WT1,FS
66#69#gene749090#110#diseaseC0950121 10571943-3#66#69#gene7490 10571943-3#90#110#diseaseC0950121 associated_with WT1,Denys-Drash syndrome
66#69#gene7490112#115#diseaseC0950121 10571943-3#66#69#gene7490 10571943-3#112#115#diseaseC0950121 associated_with WT1,DDS

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 100-116 ORDO:347 denotes Frasier syndrome
AB1 255-271 ORDO:347 denotes Frasier syndrome
AB2 483-503 ORDO:220 denotes Denys-Drash syndrome

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-117 Sentence denotes Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.
TextSentencer_T2 118-277 Sentence denotes We report new mutations in exon 9 of the WT1 gene that did not alter the ratio of +/- KTS splice isoforms in two unrelated patients with Frasier syndrome (FS).
TextSentencer_T3 278-392 Sentence denotes The mutation of intron 9 inducing defective alternative splicing was reported to be responsible for this syndrome.
TextSentencer_T4 393-574 Sentence denotes The mutations found in our cases occurred in the same exon of the WT1 gene as detected in Denys-Drash syndrome (DDS) and could not be explained by the previously proposed mechanism.
TextSentencer_T5 575-663 Sentence denotes The results suggest that the two syndromes originate from the same WT1 gene abnormality.
TextSentencer_T6 664-820 Sentence denotes From a molecular biological point of view, we concluded that the two diseases were not separable, and that FS should be included as an atypical form of DDS.
T1 0-117 Sentence denotes Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.
T2 118-277 Sentence denotes We report new mutations in exon 9 of the WT1 gene that did not alter the ratio of +/- KTS splice isoforms in two unrelated patients with Frasier syndrome (FS).
T3 278-392 Sentence denotes The mutation of intron 9 inducing defective alternative splicing was reported to be responsible for this syndrome.
T4 393-574 Sentence denotes The mutations found in our cases occurred in the same exon of the WT1 gene as detected in Denys-Drash syndrome (DDS) and could not be explained by the previously proposed mechanism.
T5 575-663 Sentence denotes The results suggest that the two syndromes originate from the same WT1 gene abnormality.
T6 664-820 Sentence denotes From a molecular biological point of view, we concluded that the two diseases were not separable, and that FS should be included as an atypical form of DDS.

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 100-116 SpecificDisease:D052159 denotes Frasier syndrome
T2 255-271 SpecificDisease:D052159 denotes Frasier syndrome
T3 273-275 SpecificDisease:D052159 denotes FS
T4 483-503 SpecificDisease:D030321 denotes Denys-Drash syndrome
T5 505-508 SpecificDisease:D030321 denotes DDS
T6 642-662 SpecificDisease:D009396 denotes WT1 gene abnormality
T7 771-773 SpecificDisease:D052159 denotes FS
T8 816-819 SpecificDisease:D030321 denotes DDS

DisGeNET

Id Subject Object Predicate Lexical cue
T0 24-27 gene:7490 denotes WT1
T1 100-116 disease:C0950122 denotes Frasier syndrome
T2 54-57 gene:791122 denotes KTS
T3 100-116 disease:C0950122 denotes Frasier syndrome
R1 T0 T1 associated_with WT1,Frasier syndrome
R2 T2 T3 associated_with KTS,Frasier syndrome

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T4510 100-116 SpecificDisease denotes Frasier syndrome D052159
T4511 255-271 SpecificDisease denotes Frasier syndrome D052159
T4512 273-275 SpecificDisease denotes FS D052159
T4513 483-503 SpecificDisease denotes Denys-Drash syndrome D030321
T4514 505-508 SpecificDisease denotes DDS D030321
T4515 642-662 SpecificDisease denotes WT1 gene abnormality D009396
T4516 771-773 SpecificDisease denotes FS D052159
T4517 816-819 SpecificDisease denotes DDS D030321

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T4510 100-116 SpecificDisease denotes Frasier syndrome D052159
T4511 255-271 SpecificDisease denotes Frasier syndrome D052159
T4512 273-275 SpecificDisease denotes FS D052159
T4513 483-503 SpecificDisease denotes Denys-Drash syndrome D030321
T4514 505-508 SpecificDisease denotes DDS D030321
T4515 642-662 SpecificDisease denotes WT1 gene abnormality D009396
T4516 771-773 SpecificDisease denotes FS D052159
T4517 816-819 SpecificDisease denotes DDS D030321

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 100-116 SpecificDisease denotes Frasier syndrome
T2 255-271 SpecificDisease denotes Frasier syndrome
T3 273-275 SpecificDisease denotes FS
T4 383-391 DiseaseClass denotes syndrome
T5 483-503 SpecificDisease denotes Denys-Drash syndrome
T6 505-508 SpecificDisease denotes DDS
T7 608-617 DiseaseClass denotes syndromes
T8 733-741 DiseaseClass denotes diseases
T9 771-773 SpecificDisease denotes FS
T10 816-819 SpecificDisease denotes DDS

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 100-116 SpecificDisease denotes Frasier syndrome
T2 255-271 SpecificDisease denotes Frasier syndrome
T3 483-503 SpecificDisease denotes Denys-Drash syndrome
T4 771-773 SpecificDisease denotes FS
T5 816-819 SpecificDisease denotes DDS

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 100-116 SpecificDisease denotes Frasier syndrome
T2 255-271 SpecificDisease denotes Frasier syndrome
T3 483-503 SpecificDisease denotes Denys-Drash syndrome
T4 771-773 Modifier denotes FS
T5 816-819 SpecificDisease denotes DDS

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 100-116 SpecificDisease denotes Frasier syndrome
T2 255-271 SpecificDisease denotes Frasier syndrome
T3 383-391 SpecificDisease denotes syndrome
T4 483-503 SpecificDisease denotes Denys-Drash syndrome
T5 608-617 DiseaseClass denotes syndromes
T6 733-741 DiseaseClass denotes diseases