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PubMed:8723064 JSONTXT

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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