PubMed:1302008
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-104 | Sentence | denotes | Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. |
| TextSentencer_T2 | 105-264 | Sentence | denotes | Denys-Drash syndrome is a rare human developmental disorder affecting the urogenital system and leading to renal failure, intersex disorders and Wilms' tumour. |
| TextSentencer_T3 | 265-407 | Sentence | denotes | In this report, four individuals with this syndrome are described carrying germline point mutations in the Wilms' tumour suppressor gene, WT1. |
| TextSentencer_T4 | 408-472 | Sentence | denotes | Three of these mutations were in the zinc finger domains of WT1. |
| TextSentencer_T5 | 473-616 | Sentence | denotes | The fourth occurred within intron 9, preventing splicing at one of the alternatively chosen splice donor sites of exon 9 when assayed in vitro. |
| TextSentencer_T6 | 617-732 | Sentence | denotes | These results provide genetic evidence for distinct functional roles of the WT1 isoforms in urogenital development. |
| T1 | 0-104 | Sentence | denotes | Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. |
| T2 | 105-264 | Sentence | denotes | Denys-Drash syndrome is a rare human developmental disorder affecting the urogenital system and leading to renal failure, intersex disorders and Wilms' tumour. |
| T3 | 265-407 | Sentence | denotes | In this report, four individuals with this syndrome are described carrying germline point mutations in the Wilms' tumour suppressor gene, WT1. |
| T4 | 408-472 | Sentence | denotes | Three of these mutations were in the zinc finger domains of WT1. |
| T5 | 473-616 | Sentence | denotes | The fourth occurred within intron 9, preventing splicing at one of the alternatively chosen splice donor sites of exon 9 when assayed in vitro. |
| T6 | 617-732 | Sentence | denotes | These results provide genetic evidence for distinct functional roles of the WT1 isoforms in urogenital development. |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 105-125 | ORDO:220 | denotes | Denys-Drash syndrome |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 46-59 | Modifier:D009396 | denotes | Wilms' tumour |
| T2 | 105-125 | SpecificDisease:D030321 | denotes | Denys-Drash syndrome |
| T3 | 142-164 | DiseaseClass:D002658 | denotes | developmental disorder |
| T4 | 212-225 | DiseaseClass:D051437 | denotes | renal failure |
| T5 | 227-245 | DiseaseClass:D012734 | denotes | intersex disorders |
| T6 | 250-263 | SpecificDisease:D009396 | denotes | Wilms' tumour |
| T7 | 372-385 | Modifier:D009396 | denotes | Wilms' tumour |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T4571 | 46-59 | Modifier | denotes | Wilms' tumour | D009396 |
| T4572 | 105-125 | SpecificDisease | denotes | Denys-Drash syndrome | D030321 |
| T4573 | 142-164 | DiseaseClass | denotes | developmental disorder | D002658 |
| T4574 | 212-225 | DiseaseClass | denotes | renal failure | D051437 |
| T4575 | 227-245 | DiseaseClass | denotes | intersex disorders | D012734 |
| T4576 | 250-263 | SpecificDisease | denotes | Wilms' tumour | D009396 |
| T4577 | 372-385 | Modifier | denotes | Wilms' tumour | D009396 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T4571 | 46-59 | Modifier | denotes | Wilms' tumour | D009396 |
| T4572 | 105-125 | SpecificDisease | denotes | Denys-Drash syndrome | D030321 |
| T4573 | 142-164 | DiseaseClass | denotes | developmental disorder | D002658 |
| T4574 | 212-225 | DiseaseClass | denotes | renal failure | D051437 |
| T4575 | 227-245 | DiseaseClass | denotes | intersex disorders | D012734 |
| T4576 | 250-263 | SpecificDisease | denotes | Wilms' tumour | D009396 |
| T4577 | 372-385 | Modifier | denotes | Wilms' tumour | D009396 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 53-59 | Modifier | denotes | tumour |
| T2 | 105-125 | SpecificDisease | denotes | Denys-Drash syndrome |
| T3 | 250-263 | SpecificDisease | denotes | Wilms' tumour |
| T4 | 379-385 | Modifier | denotes | tumour |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 46-59 | Modifier | denotes | Wilms' tumour |
| T2 | 105-125 | SpecificDisease | denotes | Denys-Drash syndrome |
| T3 | 212-225 | SpecificDisease | denotes | renal failure |
| T4 | 250-263 | SpecificDisease | denotes | Wilms' tumour |
| T5 | 372-385 | Modifier | denotes | Wilms' tumour |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 46-59 | SpecificDisease | denotes | Wilms' tumour |
| T2 | 81-103 | Modifier | denotes | urogenital development |
| T3 | 105-125 | SpecificDisease | denotes | Denys-Drash syndrome |
| T4 | 212-225 | DiseaseClass | denotes | renal failure |
| T5 | 227-245 | DiseaseClass | denotes | intersex disorders |
| T6 | 250-263 | SpecificDisease | denotes | Wilms' tumour |
| T7 | 372-385 | Modifier | denotes | Wilms' tumour |
| T8 | 709-731 | Modifier | denotes | urogenital development |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 46-59 | SpecificDisease | denotes | Wilms' tumour |
| T2 | 105-125 | SpecificDisease | denotes | Denys-Drash syndrome |
| T3 | 182-225 | CompositeMention | denotes | genital system and leading to renal failure |
| T4 | 227-245 | DiseaseClass | denotes | intersex disorders |
| T5 | 250-263 | SpecificDisease | denotes | Wilms' tumour |
| T6 | 372-385 | SpecificDisease | denotes | Wilms' tumour |