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NCBI-Disease-Corpus-GPT5-withguidelines

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 SpecificDisease denotes PWS
T4 320-323 SpecificDisease denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 Modifier denotes PWS
T7 953-956 Modifier denotes PWS
T8 1710-1713 SpecificDisease denotes PWS
T9 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Corpus-GPT5-noguidelines

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 SpecificDisease denotes PWS
T4 320-323 SpecificDisease denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 SpecificDisease denotes PWS
T7 953-956 SpecificDisease denotes PWS
T8 1496-1528 SpecificDisease denotes haploinsufficiency of distal 3 p
T9 1710-1713 SpecificDisease denotes PWS
T10 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Corpus-GPT5-guidelineprompt

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 SpecificDisease denotes PWS
T4 320-323 SpecificDisease denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 Modifier denotes PWS
T7 953-956 Modifier denotes PWS
T8 1710-1713 SpecificDisease denotes PWS
T9 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Corpus-Moderated1

Id Subject Object Predicate Lexical cue
T1 0-15 DiseaseClass denotes Maternal disomy
T2 20-41 SpecificDisease denotes Prader-Willi syndrome
T3 137-164 DiseaseClass denotes Maternal uniparental disomy
T4 166-169 DiseaseClass denotes UPD
T5 237-258 SpecificDisease denotes Prader-Willi syndrome
T6 260-263 SpecificDisease denotes PWS
T7 298-316 DiseaseClass denotes maternal disomy 15
T8 320-323 SpecificDisease denotes PWS
T9 528-531 SpecificDisease denotes PWS
T10 856-859 Modifier denotes PWS
T11 953-956 Modifier denotes PWS
T12 1193-1208 DiseaseClass denotes Maternal disomy
T13 1530-1548 DiseaseClass denotes Uniparental disomy
T14 1710-1713 SpecificDisease denotes PWS
T15 1806-1821 DiseaseClass denotes maternal UPD 15
T16 1826-1829 SpecificDisease denotes PWS

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-136 Sentence denotes Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
TextSentencer_T2 137-265 Sentence denotes Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS).
TextSentencer_T3 266-477 Sentence denotes We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15.
TextSentencer_T4 478-706 Sentence denotes The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p.
TextSentencer_T5 707-790 Sentence denotes The t(3;15) was present in the balanced state in the patient's father and a sister.
TextSentencer_T6 791-1005 Sentence denotes Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B.
TextSentencer_T7 1006-1192 Sentence denotes Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B.
TextSentencer_T8 1193-1356 Sentence denotes Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus.
TextSentencer_T9 1357-1529 Sentence denotes A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p.
TextSentencer_T10 1530-1714 Sentence denotes Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS.
TextSentencer_T11 1715-1830 Sentence denotes Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS.
T1 0-136 Sentence denotes Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
T2 137-265 Sentence denotes Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS).
T3 266-477 Sentence denotes We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15.
T4 478-706 Sentence denotes The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p.
T5 707-790 Sentence denotes The t(3;15) was present in the balanced state in the patient's father and a sister.
T6 791-1005 Sentence denotes Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B.
T7 1006-1192 Sentence denotes Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B.
T8 1193-1356 Sentence denotes Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus.
T9 1357-1529 Sentence denotes A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p.
T10 1530-1714 Sentence denotes Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS.
T11 1715-1830 Sentence denotes Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1106-1111 gene:6638 denotes SNRPN
T1 856-859 disease:C0032897 denotes PWS
T2 1106-1111 gene:6638 denotes SNRPN
T3 953-956 disease:C0032897 denotes PWS
T4 1342-1348 gene:2562 denotes GABRB3
T5 856-859 disease:C0032897 denotes PWS
T6 1342-1348 gene:2562 denotes GABRB3
T7 953-956 disease:C0032897 denotes PWS
R1 T0 T1 associated_with SNRPN,PWS
R2 T2 T3 associated_with SNRPN,PWS
R3 T4 T5 associated_with GABRB3,PWS
R4 T6 T7 associated_with GABRB3,PWS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
9674903-5#315#320#gene6638 1106-1111 gene6638 denotes SNRPN
9674903-5#65#68#diseaseC0032897 856-859 diseaseC0032897 denotes PWS
9674903-5#162#165#diseaseC0032897 953-956 diseaseC0032897 denotes PWS
9674903-5#918#921#diseaseC0032897 1710-1713 diseaseC0032897 denotes PWS
315#320#gene663865#68#diseaseC0032897 9674903-5#315#320#gene6638 9674903-5#65#68#diseaseC0032897 associated_with SNRPN,PWS
315#320#gene6638162#165#diseaseC0032897 9674903-5#315#320#gene6638 9674903-5#162#165#diseaseC0032897 associated_with SNRPN,PWS
315#320#gene6638918#921#diseaseC0032897 9674903-5#315#320#gene6638 9674903-5#918#921#diseaseC0032897 associated_with SNRPN,PWS

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 629-632 http://purl.obolibrary.org/obo/UBERON_0001460 denotes arm
PD-UBERON-AE-B_T2 655-658 http://purl.obolibrary.org/obo/UBERON_0001460 denotes arm
PD-UBERON-AE-B_T3 699-702 http://purl.obolibrary.org/obo/UBERON_0001460 denotes arm

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 20-41 ORDO:739 denotes Prader-Willi syndrome
AB1 237-258 ORDO:739 denotes Prader-Willi syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 629-632 http://purl.obolibrary.org/obo/UBERON_0001460 denotes arm
PD-UBERON-AE-B_T2 655-658 http://purl.obolibrary.org/obo/UBERON_0001460 denotes arm
PD-UBERON-AE-B_T3 699-702 http://purl.obolibrary.org/obo/UBERON_0001460 denotes arm

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 0-15 DiseaseClass:D024182 denotes Maternal disomy
T2 20-41 SpecificDisease:D011218 denotes Prader-Willi syndrome
T3 137-188 SpecificDisease:C538037 denotes Maternal uniparental disomy (UPD) for chromosome 15
T4 237-258 SpecificDisease:D011218 denotes Prader-Willi syndrome
T5 260-263 SpecificDisease:D011218 denotes PWS
T6 298-316 SpecificDisease:C538037 denotes maternal disomy 15
T7 320-323 SpecificDisease:D011218 denotes PWS
T8 528-531 SpecificDisease:D011218 denotes PWS
T9 856-859 Modifier:D011218 denotes PWS
T10 953-956 Modifier:D011218 denotes PWS
T11 1193-1208 DiseaseClass:D024182 denotes Maternal disomy
T12 1530-1548 DiseaseClass:D024182 denotes Uniparental disomy
T13 1710-1713 SpecificDisease:D011218 denotes PWS
T14 1806-1821 SpecificDisease:C538037 denotes maternal UPD 15
T15 1826-1829 SpecificDisease:D011218 denotes PWS

NCBI-Disease-Test

Id Subject Object Predicate Lexical cue database_id
T54 0-15 DiseaseClass denotes Maternal disomy D024182
T55 20-41 SpecificDisease denotes Prader-Willi syndrome D011218
T56 137-188 SpecificDisease denotes Maternal uniparental disomy (UPD) for chromosome 15 C538037
T57 237-258 SpecificDisease denotes Prader-Willi syndrome D011218
T58 260-263 SpecificDisease denotes PWS D011218
T59 298-316 SpecificDisease denotes maternal disomy 15 C538037
T60 320-323 SpecificDisease denotes PWS D011218
T61 528-531 SpecificDisease denotes PWS D011218
T62 856-859 Modifier denotes PWS D011218
T63 953-956 Modifier denotes PWS D011218
T64 1193-1208 DiseaseClass denotes Maternal disomy D024182
T65 1530-1548 DiseaseClass denotes Uniparental disomy D024182
T66 1710-1713 SpecificDisease denotes PWS D011218
T67 1806-1821 SpecificDisease denotes maternal UPD 15 C538037
T68 1826-1829 SpecificDisease denotes PWS D011218

NCBI-Disease-Test-Assistant-Knowledge

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 320-323 SpecificDisease denotes PWS
T4 528-531 SpecificDisease denotes PWS
T5 1710-1713 SpecificDisease denotes PWS

NCBI-Disease-Test-4o-NoGuidelineInPrompt

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-264 SpecificDisease denotes Prader-Willi syndrome (PWS)
T3 320-323 SpecificDisease denotes PWS
T4 528-531 SpecificDisease denotes PWS
T5 856-859 SpecificDisease denotes PWS
T6 953-956 SpecificDisease denotes PWS
T7 1496-1514 Modifier denotes haploinsufficiency
T8 1710-1713 SpecificDisease denotes PWS
T9 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Corpus-o3-2

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 SpecificDisease denotes PWS
T4 320-323 SpecificDisease denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 Modifier denotes PWS
T7 953-956 Modifier denotes PWS
T8 1496-1528 SpecificDisease denotes haploinsufficiency of distal 3 p
T9 1710-1713 SpecificDisease denotes PWS
T10 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Corpus-high-o3-1

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 SpecificDisease denotes PWS
T4 320-323 SpecificDisease denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 SpecificDisease denotes PWS
T7 953-956 SpecificDisease denotes PWS
T8 1710-1713 SpecificDisease denotes PWS
T9 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Corpus-high-o3-2

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 SpecificDisease denotes PWS
T4 320-323 SpecificDisease denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 SpecificDisease denotes PWS
T7 953-956 SpecificDisease denotes PWS
T8 1710-1713 SpecificDisease denotes PWS
T9 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Test-4o-GuidelineInPrompt

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 SpecificDisease denotes PWS
T4 320-323 SpecificDisease denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 SpecificDisease denotes PWS
T7 953-956 SpecificDisease denotes PWS
T8 1710-1713 SpecificDisease denotes PWS
T9 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Corpus-UpdatedGuideline

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 SpecificDisease denotes PWS
T4 320-323 SpecificDisease denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 SpecificDisease denotes PWS
T7 953-956 SpecificDisease denotes PWS
T8 1710-1713 SpecificDisease denotes PWS
T9 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Corpus-humanintheloop

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 SpecificDisease denotes PWS
T4 320-323 SpecificDisease denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 SpecificDisease denotes PWS
T7 953-956 SpecificDisease denotes PWS
T8 1710-1713 SpecificDisease denotes PWS
T9 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Corpus-rezarta1

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 SpecificDisease denotes PWS
T4 320-323 SpecificDisease denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 SpecificDisease denotes PWS
T7 953-956 SpecificDisease denotes PWS
T8 1710-1713 SpecificDisease denotes PWS
T9 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T54 0-15 DiseaseClass denotes Maternal disomy D024182
T55 20-41 SpecificDisease denotes Prader-Willi syndrome D011218
T56 137-188 SpecificDisease denotes Maternal uniparental disomy (UPD) for chromosome 15 C538037
T57 237-258 SpecificDisease denotes Prader-Willi syndrome D011218
T58 260-263 SpecificDisease denotes PWS D011218
T59 298-316 SpecificDisease denotes maternal disomy 15 C538037
T60 320-323 SpecificDisease denotes PWS D011218
T61 528-531 SpecificDisease denotes PWS D011218
T62 856-859 Modifier denotes PWS D011218
T63 953-956 Modifier denotes PWS D011218
T64 1193-1208 DiseaseClass denotes Maternal disomy D024182
T65 1530-1548 DiseaseClass denotes Uniparental disomy D024182
T66 1710-1713 SpecificDisease denotes PWS D011218
T67 1806-1821 SpecificDisease denotes maternal UPD 15 C538037
T68 1826-1829 SpecificDisease denotes PWS D011218

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 SpecificDisease denotes PWS
T4 320-323 SpecificDisease denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 SpecificDisease denotes PWS
T7 953-956 SpecificDisease denotes PWS
T8 1710-1713 SpecificDisease denotes PWS
T9 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 SpecificDisease denotes PWS
T4 320-323 SpecificDisease denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 SpecificDisease denotes PWS
T7 953-956 SpecificDisease denotes PWS
T8 1710-1713 SpecificDisease denotes PWS
T9 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 320-323 SpecificDisease denotes PWS
T4 528-531 SpecificDisease denotes PWS
T5 856-859 SpecificDisease denotes PWS
T6 953-956 SpecificDisease denotes PWS
T7 1710-1713 SpecificDisease denotes PWS
T8 1826-1829 SpecificDisease denotes PWS

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-264 SpecificDisease denotes Prader-Willi syndrome (PWS)
T3 320-323 SpecificDisease denotes PWS
T4 528-531 SpecificDisease denotes PWS
T5 856-859 SpecificDisease denotes PWS
T6 953-956 SpecificDisease denotes PWS
T7 1710-1713 SpecificDisease denotes PWS
T8 1826-1829 SpecificDisease denotes PWS

123456

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 SpecificDisease denotes PWS
T4 320-323 SpecificDisease denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 SpecificDisease denotes PWS
T7 953-956 SpecificDisease denotes PWS
T8 1710-1713 SpecificDisease denotes PWS
T9 1826-1829 SpecificDisease denotes PWS

12345

Id Subject Object Predicate Lexical cue
T1 20-41 SpecificDisease denotes Prader-Willi syndrome
T2 237-258 SpecificDisease denotes Prader-Willi syndrome
T3 260-263 Modifier denotes PWS
T4 320-323 Modifier denotes PWS
T5 528-531 SpecificDisease denotes PWS
T6 856-859 Modifier denotes PWS
T7 953-956 Modifier denotes PWS
T8 1710-1713 SpecificDisease denotes PWS
T9 1826-1829 SpecificDisease denotes PWS