PubMed:9450866
Annnotations
NCBI-Disease-Corpus-GPT5-withguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-10 | SpecificDisease | denotes | Piebaldism |
| T2 | 16-24 | DiseaseClass | denotes | deafness |
| T3 | 122-132 | SpecificDisease | denotes | piebaldism |
| T4 | 146-179 | SpecificDisease | denotes | congenital sensorineural deafness |
| T5 | 381-404 | SpecificDisease | denotes | dominant white spotting |
| T6 | 431-439 | DiseaseClass | denotes | deafness |
| T7 | 464-474 | SpecificDisease | denotes | piebaldism |
| T8 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T9 | 584-594 | SpecificDisease | denotes | piebaldism |
| T10 | 675-685 | SpecificDisease | denotes | piebaldism |
| T11 | 711-731 | SpecificDisease | denotes | Waardenburg syndrome |
NCBI-Disease-Corpus-GPT5-noguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-10 | SpecificDisease | denotes | Piebaldism |
| T2 | 16-24 | DiseaseClass | denotes | deafness |
| T3 | 115-121 | Modifier | denotes | severe |
| T4 | 122-132 | SpecificDisease | denotes | piebaldism |
| T5 | 137-145 | Modifier | denotes | profound |
| T6 | 146-156 | Modifier | denotes | congenital |
| T7 | 157-179 | SpecificDisease | denotes | sensorineural deafness |
| T8 | 330-348 | DiseaseClass | denotes | auditory anomalies |
| T9 | 381-389 | Modifier | denotes | dominant |
| T10 | 431-439 | DiseaseClass | denotes | deafness |
| T11 | 443-454 | Modifier | denotes | not typical |
| T12 | 464-474 | SpecificDisease | denotes | piebaldism |
| T13 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T14 | 584-594 | SpecificDisease | denotes | piebaldism |
| T15 | 675-685 | SpecificDisease | denotes | piebaldism |
| T16 | 694-707 | Modifier | denotes | various forms |
| T17 | 711-731 | SpecificDisease | denotes | Waardenburg syndrome |
NCBI-Disease-Corpus-GPT5-guidelineprompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-10 | SpecificDisease | denotes | Piebaldism |
| T2 | 16-24 | SpecificDisease | denotes | deafness |
| T3 | 122-132 | SpecificDisease | denotes | piebaldism |
| T4 | 157-179 | SpecificDisease | denotes | sensorineural deafness |
| T5 | 381-404 | SpecificDisease | denotes | dominant white spotting |
| T6 | 406-407 | SpecificDisease | denotes | W |
| T7 | 431-439 | SpecificDisease | denotes | deafness |
| T8 | 464-474 | SpecificDisease | denotes | piebaldism |
| T9 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T10 | 584-594 | SpecificDisease | denotes | piebaldism |
| T11 | 675-685 | SpecificDisease | denotes | piebaldism |
| T12 | 711-731 | SpecificDisease | denotes | Waardenburg syndrome |
NCBI-Disease-Corpus-Moderated1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-24 | CompositeMention | denotes | Piebaldism with deafness |
| T2 | 122-132 | SpecificDisease | denotes | piebaldism |
| T3 | 146-179 | SpecificDisease | denotes | congenital sensorineural deafness |
| T4 | 381-404 | SpecificDisease | denotes | dominant white spotting |
| T5 | 406-407 | SpecificDisease | denotes | W |
| T6 | 431-439 | SpecificDisease | denotes | deafness |
| T7 | 464-474 | SpecificDisease | denotes | piebaldism |
| T8 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T9 | 584-594 | SpecificDisease | denotes | piebaldism |
| T10 | 675-685 | SpecificDisease | denotes | piebaldism |
| T11 | 711-731 | SpecificDisease | denotes | Waardenburg syndrome |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 602-605 | gene:3815 | denotes | KIT |
| T1 | 500-522 | disease:C0018784 | denotes | sensorineural deafness |
| T2 | 602-605 | gene:3815 | denotes | KIT |
| T3 | 584-594 | disease:C0080024 | denotes | piebaldism |
| T4 | 602-605 | gene:3815 | denotes | KIT |
| T5 | 675-685 | disease:C0080024 | denotes | piebaldism |
| T6 | 602-605 | gene:3815 | denotes | KIT |
| T7 | 711-731 | disease:C3266898 | denotes | Waardenburg syndrome |
| R1 | T0 | T1 | associated_with | KIT,sensorineural deafness |
| R2 | T2 | T3 | associated_with | KIT,piebaldism |
| R3 | T4 | T5 | associated_with | KIT,piebaldism |
| R4 | T6 | T7 | associated_with | KIT,Waardenburg syndrome |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 9450866-3#126#129#gene3815 | 602-605 | gene3815 | denotes | KIT |
| 9450866-3#108#118#diseaseC0080024 | 584-594 | diseaseC0080024 | denotes | piebaldism |
| 9450866-3#199#209#diseaseC0080024 | 675-685 | diseaseC0080024 | denotes | piebaldism |
| 126#129#gene3815108#118#diseaseC0080024 | 9450866-3#126#129#gene3815 | 9450866-3#108#118#diseaseC0080024 | associated_with | KIT,piebaldism |
| 126#129#gene3815199#209#diseaseC0080024 | 9450866-3#126#129#gene3815 | 9450866-3#199#209#diseaseC0080024 | associated_with | KIT,piebaldism |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-70 | Sentence | denotes | Piebaldism with deafness: molecular evidence for an expanded syndrome. |
| TextSentencer_T2 | 71-322 | Sentence | denotes | In a South African girl of Xhosa stock with severe piebaldism and profound congenital sensorineural deafness we identified a novel missense substitution at a highly conserved residue in the intracellular kinase domain of the KIT proto-oncogene, R796G. |
| TextSentencer_T3 | 323-475 | Sentence | denotes | Though auditory anomalies have been observed in mice with dominant white spotting (W) due to KIT mutations, deafness is not typical in human piebaldism. |
| TextSentencer_T4 | 476-732 | Sentence | denotes | Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome. |
| T1 | 0-70 | Sentence | denotes | Piebaldism with deafness: molecular evidence for an expanded syndrome. |
| T2 | 71-322 | Sentence | denotes | In a South African girl of Xhosa stock with severe piebaldism and profound congenital sensorineural deafness we identified a novel missense substitution at a highly conserved residue in the intracellular kinase domain of the KIT proto-oncogene, R796G. |
| T3 | 323-475 | Sentence | denotes | Though auditory anomalies have been observed in mice with dominant white spotting (W) due to KIT mutations, deafness is not typical in human piebaldism. |
| T4 | 476-732 | Sentence | denotes | Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome. |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 0-10 | HP:0007544 | denotes | Piebaldism |
| AB1 | 122-132 | HP:0007544 | denotes | piebaldism |
| AB2 | 464-474 | HP:0007544 | denotes | piebaldism |
| AB3 | 584-594 | HP:0007544 | denotes | piebaldism |
| AB4 | 675-685 | HP:0007544 | denotes | piebaldism |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 0-10 | ORDO:2884 | denotes | Piebaldism |
| AB1 | 122-132 | ORDO:2884 | denotes | piebaldism |
| AB2 | 464-474 | ORDO:2884 | denotes | piebaldism |
| AB3 | 584-594 | ORDO:2884 | denotes | piebaldism |
| AB4 | 675-685 | ORDO:2884 | denotes | piebaldism |
| AB5 | 711-731 | ORDO:3440 | denotes | Waardenburg syndrome |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-10 | SpecificDisease:D016116 | denotes | Piebaldism |
| T2 | 16-24 | SpecificDisease:D003638 | denotes | deafness |
| T3 | 122-132 | SpecificDisease:D016116 | denotes | piebaldism |
| T4 | 157-179 | SpecificDisease:D006319 | denotes | sensorineural deafness |
| T5 | 330-348 | DiseaseClass:D001304 | denotes | auditory anomalies |
| T6 | 431-439 | SpecificDisease:D003638 | denotes | deafness |
| T7 | 464-474 | SpecificDisease:D016116 | denotes | piebaldism |
| T8 | 500-522 | SpecificDisease:D006319 | denotes | sensorineural deafness |
| T9 | 584-594 | SpecificDisease:D016116 | denotes | piebaldism |
| T10 | 675-685 | SpecificDisease:D016116 | denotes | piebaldism |
| T11 | 711-731 | SpecificDisease:D014849 | denotes | Waardenburg syndrome |
NCBI-Disease-Test
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T812 | 0-10 | SpecificDisease | denotes | Piebaldism | D016116 |
| T813 | 16-24 | SpecificDisease | denotes | deafness | D003638 |
| T814 | 122-132 | SpecificDisease | denotes | piebaldism | D016116 |
| T815 | 157-179 | SpecificDisease | denotes | sensorineural deafness | D006319 |
| T816 | 330-348 | DiseaseClass | denotes | auditory anomalies | D001304 |
| T817 | 431-439 | SpecificDisease | denotes | deafness | D003638 |
| T818 | 464-474 | SpecificDisease | denotes | piebaldism | D016116 |
| T819 | 500-522 | SpecificDisease | denotes | sensorineural deafness | D006319 |
| T820 | 584-594 | SpecificDisease | denotes | piebaldism | D016116 |
| T821 | 675-685 | SpecificDisease | denotes | piebaldism | D016116 |
| T822 | 711-731 | SpecificDisease | denotes | Waardenburg syndrome | D014849 |
NCBI-Disease-Test-Assistant-Knowledge
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 122-132 | SpecificDisease | denotes | piebaldism |
| T2 | 157-179 | SpecificDisease | denotes | sensorineural deafness |
| T3 | 431-439 | SpecificDisease | denotes | deafness |
| T4 | 464-474 | SpecificDisease | denotes | piebaldism |
| T5 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T6 | 584-594 | SpecificDisease | denotes | piebaldism |
| T7 | 675-685 | SpecificDisease | denotes | piebaldism |
| T8 | 711-731 | DiseaseClass | denotes | Waardenburg syndrome |
NCBI-Disease-Test-4o-NoGuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 16-24 | SpecificDisease | denotes | deafness |
| T2 | 122-132 | SpecificDisease | denotes | piebaldism |
| T3 | 157-179 | SpecificDisease | denotes | sensorineural deafness |
| T4 | 431-439 | SpecificDisease | denotes | deafness |
| T5 | 464-474 | SpecificDisease | denotes | piebaldism |
| T6 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T7 | 584-594 | SpecificDisease | denotes | piebaldism |
| T8 | 675-685 | SpecificDisease | denotes | piebaldism |
| T9 | 711-731 | DiseaseClass | denotes | Waardenburg syndrome |
NCBI-Disease-Corpus-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-10 | SpecificDisease | denotes | Piebaldism |
| T2 | 16-24 | SpecificDisease | denotes | deafness |
| T3 | 122-132 | SpecificDisease | denotes | piebaldism |
| T4 | 157-179 | SpecificDisease | denotes | sensorineural deafness |
| T5 | 431-439 | SpecificDisease | denotes | deafness |
| T6 | 464-474 | SpecificDisease | denotes | piebaldism |
| T7 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T8 | 584-594 | SpecificDisease | denotes | piebaldism |
| T9 | 675-685 | SpecificDisease | denotes | piebaldism |
| T10 | 711-731 | SpecificDisease | denotes | Waardenburg syndrome |
NCBI-Disease-Corpus-high-o3-1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-10 | SpecificDisease | denotes | Piebaldism |
| T2 | 16-24 | SpecificDisease | denotes | deafness |
| T3 | 122-132 | SpecificDisease | denotes | piebaldism |
| T4 | 146-179 | SpecificDisease | denotes | congenital sensorineural deafness |
| T5 | 431-439 | SpecificDisease | denotes | deafness |
| T6 | 464-474 | SpecificDisease | denotes | piebaldism |
| T7 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T8 | 584-594 | SpecificDisease | denotes | piebaldism |
| T9 | 675-685 | SpecificDisease | denotes | piebaldism |
| T10 | 711-731 | SpecificDisease | denotes | Waardenburg syndrome |
NCBI-Disease-Corpus-high-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-10 | SpecificDisease | denotes | Piebaldism |
| T2 | 16-24 | SpecificDisease | denotes | deafness |
| T3 | 122-132 | SpecificDisease | denotes | piebaldism |
| T4 | 157-179 | SpecificDisease | denotes | sensorineural deafness |
| T5 | 431-439 | SpecificDisease | denotes | deafness |
| T6 | 464-474 | SpecificDisease | denotes | piebaldism |
| T7 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T8 | 584-594 | SpecificDisease | denotes | piebaldism |
| T9 | 675-685 | SpecificDisease | denotes | piebaldism |
| T10 | 711-731 | SpecificDisease | denotes | Waardenburg syndrome |
NCBI-Disease-Test-4o-GuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 122-132 | SpecificDisease | denotes | piebaldism |
| T2 | 146-179 | SpecificDisease | denotes | congenital sensorineural deafness |
| T3 | 464-474 | SpecificDisease | denotes | piebaldism |
| T4 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T5 | 584-594 | SpecificDisease | denotes | piebaldism |
| T6 | 675-685 | SpecificDisease | denotes | piebaldism |
| T7 | 711-731 | DiseaseClass | denotes | Waardenburg syndrome |
NCBI-Disease-Corpus-UpdatedGuideline
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 122-132 | SpecificDisease | denotes | piebaldism |
| T2 | 146-179 | SpecificDisease | denotes | congenital sensorineural deafness |
| T3 | 431-439 | SpecificDisease | denotes | deafness |
| T4 | 464-474 | SpecificDisease | denotes | piebaldism |
| T5 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T6 | 584-594 | SpecificDisease | denotes | piebaldism |
| T7 | 675-685 | SpecificDisease | denotes | piebaldism |
| T8 | 711-731 | DiseaseClass | denotes | Waardenburg syndrome |
NCBI-Disease-Corpus-humanintheloop
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 16-24 | CompositeMention | denotes | deafness |
| T2 | 122-132 | SpecificDisease | denotes | piebaldism |
| T3 | 171-179 | CompositeMention | denotes | deafness |
| T4 | 431-439 | SpecificDisease | denotes | deafness |
| T5 | 464-474 | SpecificDisease | denotes | piebaldism |
| T6 | 514-522 | CompositeMention | denotes | deafness |
| T7 | 584-594 | SpecificDisease | denotes | piebaldism |
| T8 | 675-685 | SpecificDisease | denotes | piebaldism |
| T9 | 711-731 | SpecificDisease | denotes | Waardenburg syndrome |
NCBI-Disease-Corpus-rezarta1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 122-132 | SpecificDisease | denotes | piebaldism |
| T2 | 157-179 | SpecificDisease | denotes | sensorineural deafness |
| T3 | 431-439 | SpecificDisease | denotes | deafness |
| T4 | 464-474 | SpecificDisease | denotes | piebaldism |
| T5 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T6 | 584-594 | SpecificDisease | denotes | piebaldism |
| T7 | 675-685 | SpecificDisease | denotes | piebaldism |
| T8 | 711-731 | DiseaseClass | denotes | Waardenburg syndrome |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T812 | 0-10 | SpecificDisease | denotes | Piebaldism | D016116 |
| T813 | 16-24 | SpecificDisease | denotes | deafness | D003638 |
| T814 | 122-132 | SpecificDisease | denotes | piebaldism | D016116 |
| T815 | 157-179 | SpecificDisease | denotes | sensorineural deafness | D006319 |
| T816 | 330-348 | DiseaseClass | denotes | auditory anomalies | D001304 |
| T817 | 431-439 | SpecificDisease | denotes | deafness | D003638 |
| T818 | 464-474 | SpecificDisease | denotes | piebaldism | D016116 |
| T819 | 500-522 | SpecificDisease | denotes | sensorineural deafness | D006319 |
| T820 | 584-594 | SpecificDisease | denotes | piebaldism | D016116 |
| T821 | 675-685 | SpecificDisease | denotes | piebaldism | D016116 |
| T822 | 711-731 | SpecificDisease | denotes | Waardenburg syndrome | D014849 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 16-24 | CompositeMention | denotes | deafness |
| T2 | 122-132 | SpecificDisease | denotes | piebaldism |
| T3 | 171-179 | CompositeMention | denotes | deafness |
| T4 | 431-439 | SpecificDisease | denotes | deafness |
| T5 | 464-474 | SpecificDisease | denotes | piebaldism |
| T6 | 514-522 | CompositeMention | denotes | deafness |
| T7 | 584-594 | SpecificDisease | denotes | piebaldism |
| T8 | 675-685 | SpecificDisease | denotes | piebaldism |
| T9 | 711-731 | SpecificDisease | denotes | Waardenburg syndrome |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 16-24 | CompositeMention | denotes | deafness |
| T2 | 122-132 | SpecificDisease | denotes | piebaldism |
| T3 | 171-179 | SpecificDisease | denotes | deafness |
| T4 | 431-439 | SpecificDisease | denotes | deafness |
| T5 | 464-474 | SpecificDisease | denotes | piebaldism |
| T6 | 514-522 | SpecificDisease | denotes | deafness |
| T7 | 584-594 | SpecificDisease | denotes | piebaldism |
| T8 | 675-685 | SpecificDisease | denotes | piebaldism |
| T9 | 711-731 | DiseaseClass | denotes | Waardenburg syndrome |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 122-132 | SpecificDisease | denotes | piebaldism |
| T2 | 157-179 | SpecificDisease | denotes | sensorineural deafness |
| T3 | 431-439 | SpecificDisease | denotes | deafness |
| T4 | 464-474 | SpecificDisease | denotes | piebaldism |
| T5 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T6 | 584-594 | SpecificDisease | denotes | piebaldism |
| T7 | 675-685 | SpecificDisease | denotes | piebaldism |
| T8 | 711-731 | DiseaseClass | denotes | Waardenburg syndrome |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-24 | CompositeMention | denotes | Piebaldism with deafness |
| T2 | 115-132 | SpecificDisease | denotes | severe piebaldism |
| T3 | 137-145 | Modifier | denotes | profound |
| T4 | 146-179 | CompositeMention | denotes | congenital sensorineural deafness |
| T5 | 330-338 | Modifier | denotes | auditory |
| T6 | 381-408 | Modifier | denotes | dominant white spotting (W) |
| T7 | 431-439 | SpecificDisease | denotes | deafness |
| T8 | 458-474 | SpecificDisease | denotes | human piebaldism |
| T9 | 500-522 | SpecificDisease | denotes | sensorineural deafness |
| T10 | 584-594 | SpecificDisease | denotes | piebaldism |
| T11 | 675-685 | SpecificDisease | denotes | piebaldism |
| T12 | 711-731 | DiseaseClass | denotes | Waardenburg syndrome |
123456
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 16-24 | CompositeMention | denotes | deafness |
| T2 | 122-132 | SpecificDisease | denotes | piebaldism |
| T3 | 171-179 | CompositeMention | denotes | deafness |
| T4 | 431-439 | SpecificDisease | denotes | deafness |
| T5 | 464-474 | SpecificDisease | denotes | piebaldism |
| T6 | 514-522 | CompositeMention | denotes | deafness |
| T7 | 584-594 | SpecificDisease | denotes | piebaldism |
| T8 | 675-685 | SpecificDisease | denotes | piebaldism |
| T9 | 711-731 | SpecificDisease | denotes | Waardenburg syndrome |
12345
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 16-24 | CompositeMention | denotes | deafness |
| T2 | 122-132 | SpecificDisease | denotes | piebaldism |
| T3 | 171-179 | CompositeMention | denotes | deafness |
| T4 | 431-439 | SpecificDisease | denotes | deafness |
| T5 | 464-474 | SpecificDisease | denotes | piebaldism |
| T6 | 514-522 | CompositeMention | denotes | deafness |
| T7 | 584-594 | SpecificDisease | denotes | piebaldism |
| T8 | 675-685 | SpecificDisease | denotes | piebaldism |
| T9 | 711-731 | DiseaseClass | denotes | Waardenburg syndrome |