PubMed:8723064
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 419-424 | gene:6638 | denotes | SNRPN |
| T1 | 392-395 | disease:C0032897 | denotes | PWS |
| R1 | T0 | T1 | associated_with | SNRPN,PWS |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 8723064-0#59#64#gene6638 | 59-64 | gene6638 | denotes | SNRPN |
| 8723064-0#69#90#diseaseC0032897 | 69-90 | diseaseC0032897 | denotes | Prader-Willi syndrome |
| 59#64#gene663869#90#diseaseC0032897 | 8723064-0#59#64#gene6638 | 8723064-0#69#90#diseaseC0032897 | associated_with | SNRPN,Prader-Willi syndrome |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-224 | Sentence | denotes | Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q. |
| TextSentencer_T2 | 225-357 | Sentence | denotes | The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). |
| TextSentencer_T3 | 358-479 | Sentence | denotes | We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). |
| TextSentencer_T4 | 480-625 | Sentence | denotes | Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. |
| TextSentencer_T5 | 626-693 | Sentence | denotes | This implies a smaller deletion limited to the PWS critical region. |
| TextSentencer_T6 | 694-811 | Sentence | denotes | FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes. |
| T1 | 0-224 | Sentence | denotes | Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q. |
| T2 | 225-357 | Sentence | denotes | The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). |
| T3 | 358-479 | Sentence | denotes | We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). |
| T4 | 480-625 | Sentence | denotes | Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11, D15S10, and GABRB3 cosmid probes were found in either patient. |
| T5 | 626-693 | Sentence | denotes | This implies a smaller deletion limited to the PWS critical region. |
| T6 | 694-811 | Sentence | denotes | FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes. |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 69-90 | ORDO:739 | denotes | Prader-Willi syndrome |
| AB1 | 329-350 | ORDO:739 | denotes | Prader-Willi syndrome |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease:D011218 | denotes | Prader-Willi syndrome |
| T2 | 329-350 | SpecificDisease:D011218 | denotes | Prader-Willi syndrome |
| T3 | 352-355 | SpecificDisease:D011218 | denotes | PWS |
| T4 | 392-395 | SpecificDisease:D011218 | denotes | PWS |
| T5 | 673-676 | Modifier:D011218 | denotes | PWS |
| T6 | 742-745 | Modifier:D011218 | denotes | PWS |
ncbi-valid-gpt-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T3 | 352-355 | SpecificDisease | denotes | PWS |
| T4 | 673-676 | Modifier | denotes | PWS |
| T5 | 742-745 | Modifier | denotes | PWS |
ncbi-valid
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T3 | 352-355 | SpecificDisease | denotes | PWS |
| T4 | 392-395 | SpecificDisease | denotes | PWS |
| T5 | 673-676 | Modifier | denotes | PWS |
| T6 | 742-745 | Modifier | denotes | PWS |
ncbi-valid-gpt-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T3 | 352-355 | SpecificDisease | denotes | PWS |
| T4 | 673-676 | SpecificDisease | denotes | PWS |
| T5 | 742-745 | SpecificDisease | denotes | PWS |
ncbi-valid-gpt-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T3 | 352-355 | SpecificDisease | denotes | PWS |
| T4 | 673-676 | SpecificDisease | denotes | PWS |
| T5 | 742-745 | SpecificDisease | denotes | PWS |
ncbi-valid-gpt-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T3 | 352-355 | SpecificDisease | denotes | PWS |
| T4 | 673-676 | Modifier | denotes | PWS |
| T5 | 742-745 | Modifier | denotes | PWS |
ncbi-valid-gemini-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T3 | 352-355 | SpecificDisease | denotes | PWS |
| T4 | 673-676 | SpecificDisease | denotes | PWS |
ncbi-valid-gemini-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 185-223 | CompositeMention | denotes | cytogenetic deletion in chromosome 15q |
| T3 | 276-281 | Modifier | denotes | SNRPN |
| T4 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T5 | 352-355 | SpecificDisease | denotes | PWS |
| T6 | 407-415 | SpecificDisease | denotes | deletion |
| T7 | 517-531 | CompositeMention | denotes | 15q12 deletion |
| T8 | 641-657 | CompositeMention | denotes | smaller deletion |
| T9 | 673-676 | SpecificDisease | denotes | PWS |
| T10 | 760-777 | CompositeMention | denotes | limited deletions |
ncbi-valid-gemini-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
ncbi-valid-deepseek-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-8 | Modifier | denotes | Deletion |
| T2 | 12-57 | SpecificDisease | denotes | small nuclear ribonucleoprotein polypeptide N |
| T3 | 59-64 | SpecificDisease | denotes | SNRPN |
| T4 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T5 | 91-99 | Modifier | denotes | detected |
| T6 | 103-137 | Modifier | denotes | fluorescence in situ hybridization |
| T7 | 139-147 | Modifier | denotes | two sibs |
| T8 | 157-164 | Modifier | denotes | typical |
| T9 | 165-174 | Modifier | denotes | phenotype |
| T10 | 185-196 | Modifier | denotes | cytogenetic |
| T11 | 197-205 | Modifier | denotes | deletion |
| T12 | 209-223 | SpecificDisease | denotes | chromosome 15q |
| T13 | 229-274 | SpecificDisease | denotes | small nuclear ribonucleoprotein polypeptide N |
| T14 | 276-281 | SpecificDisease | denotes | SNRPN |
| T15 | 283-287 | Modifier | denotes | gene |
| T16 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T17 | 352-355 | SpecificDisease | denotes | PWS |
| T18 | 370-378 | Modifier | denotes | two sibs |
| T19 | 384-391 | Modifier | denotes | typical |
| T20 | 396-406 | Modifier | denotes | presenting |
| T21 | 407-415 | Modifier | denotes | deletion |
| T22 | 419-424 | SpecificDisease | denotes | SNRPN |
| T23 | 425-433 | Modifier | denotes | detected |
| T24 | 437-471 | Modifier | denotes | fluorescence in situ hybridization |
| T25 | 473-477 | Modifier | denotes | FISH |
| T26 | 490-516 | Modifier | denotes | cytogenetically detectable |
| T27 | 517-531 | SpecificDisease | denotes | 15q12 deletion |
| T28 | 555-561 | SpecificDisease | denotes | D15S11 |
| T29 | 563-569 | SpecificDisease | denotes | D15S10 |
| T30 | 575-581 | SpecificDisease | denotes | GABRB3 |
| T31 | 582-588 | Modifier | denotes | cosmid |
| T32 | 589-595 | Modifier | denotes | probes |
| T33 | 617-624 | Modifier | denotes | patient |
| T34 | 641-648 | Modifier | denotes | smaller |
| T35 | 658-665 | Modifier | denotes | limited |
| T36 | 673-676 | SpecificDisease | denotes | PWS |
| T37 | 677-685 | Modifier | denotes | critical |
| T38 | 686-692 | Modifier | denotes | region |
| T39 | 706-711 | SpecificDisease | denotes | SNRPN |
| T40 | 730-738 | Modifier | denotes | analysis |
| T41 | 746-754 | Modifier | denotes | patients |
| T42 | 768-777 | Modifier | denotes | deletions |
ncbi-valid-deepseek-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 352-355 | SpecificDisease | denotes | PWS |
ncbi-valid-deepseek-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 352-355 | SpecificDisease | denotes | PWS |
ncbi-valid-deepseek-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T3 | 352-355 | SpecificDisease | denotes | PWS |
ncbi-valid-gemini-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-8 | DiseaseClass | denotes | Deletion |
| T2 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T3 | 157-174 | Modifier | denotes | typical phenotype |
| T4 | 185-205 | DiseaseClass | denotes | cytogenetic deletion |
| T5 | 209-223 | Modifier | denotes | chromosome 15q |
| T6 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T7 | 352-355 | SpecificDisease | denotes | PWS |
| T8 | 384-391 | Modifier | denotes | typical |
| T9 | 407-415 | DiseaseClass | denotes | deletion |
| T10 | 490-516 | Modifier | denotes | cytogenetically detectable |
| T11 | 517-531 | DiseaseClass | denotes | 15q12 deletion |
| T12 | 641-648 | Modifier | denotes | smaller |
| T13 | 658-665 | Modifier | denotes | limited |
| T14 | 673-692 | CompositeMention | denotes | PWS critical region |
| T15 | 768-777 | DiseaseClass | denotes | deletions |
ncbi-valid-gemini-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T3 | 352-355 | SpecificDisease | denotes | PWS |
| T4 | 673-676 | Modifier | denotes | PWS |
ncbi-valid-gpt-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T3 | 352-355 | SpecificDisease | denotes | PWS |
| T4 | 673-676 | Modifier | denotes | PWS |
ncbi-valid-deepseek-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 352-355 | SpecificDisease | denotes | PWS |
| T3 | 392-395 | Modifier | denotes | PWS |
NCBI-Disease-Develop
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T342 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome | D011218 |
| T343 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome | D011218 |
| T344 | 352-355 | SpecificDisease | denotes | PWS | D011218 |
| T345 | 392-395 | SpecificDisease | denotes | PWS | D011218 |
| T346 | 673-676 | Modifier | denotes | PWS | D011218 |
| T347 | 742-745 | Modifier | denotes | PWS | D011218 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T342 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome | D011218 |
| T343 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome | D011218 |
| T344 | 352-355 | SpecificDisease | denotes | PWS | D011218 |
| T345 | 392-395 | SpecificDisease | denotes | PWS | D011218 |
| T346 | 673-676 | Modifier | denotes | PWS | D011218 |
| T347 | 742-745 | Modifier | denotes | PWS | D011218 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T3 | 352-355 | SpecificDisease | denotes | PWS |
| T4 | 392-395 | SpecificDisease | denotes | PWS |
| T5 | 673-676 | SpecificDisease | denotes | PWS |
| T6 | 742-745 | Modifier | denotes | PWS |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 329-350 | SpecificDisease | denotes | Prader-Willi syndrome |
| T3 | 352-355 | SpecificDisease | denotes | PWS |
| T4 | 392-395 | SpecificDisease | denotes | PWS |
| T5 | 673-676 | SpecificDisease | denotes | PWS |
| T6 | 742-745 | SpecificDisease | denotes | PWS |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 329-356 | SpecificDisease | denotes | Prader-Willi syndrome (PWS) |
| T3 | 392-395 | SpecificDisease | denotes | PWS |
| T4 | 673-676 | SpecificDisease | denotes | PWS |
| T5 | 742-745 | SpecificDisease | denotes | PWS |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-90 | SpecificDisease | denotes | Prader-Willi syndrome |
| T2 | 329-356 | SpecificDisease | denotes | Prader-Willi syndrome (PWS) |
| T3 | 673-676 | SpecificDisease | denotes | PWS |
| T4 | 742-745 | SpecificDisease | denotes | PWS |