PubMed:9521421
Annnotations
NCBI-Disease-Corpus-GPT5-withguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease | denotes | MPS IVA |
| T4 | 235-261 | DiseaseClass | denotes | lysosomal storage disorder |
| T5 | 476-483 | Modifier | denotes | MPS IVA |
| T6 | 593-600 | Modifier | denotes | MPS IVA |
| T7 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Corpus-GPT5-noguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 157-171 | Modifier | denotes | mild phenotype |
| T3 | 173-208 | CompositeMention | denotes | Mucopolysaccharidosis IVA (MPS IVA) |
| T4 | 215-234 | Modifier | denotes | autosomal recessive |
| T5 | 235-261 | DiseaseClass | denotes | lysosomal storage disorder |
| T6 | 476-483 | SpecificDisease | denotes | MPS IVA |
| T7 | 508-533 | Modifier | denotes | severe clinical phenotype |
| T8 | 593-600 | SpecificDisease | denotes | MPS IVA |
| T9 | 690-696 | Modifier | denotes | severe |
| T10 | 708-720 | Modifier | denotes | intermediate |
| T11 | 731-735 | Modifier | denotes | mild |
| T12 | 921-927 | Modifier | denotes | milder |
| T13 | 998-1014 | Modifier | denotes | severe phenotype |
| T14 | 1260-1274 | Modifier | denotes | mild phenotype |
| T15 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Corpus-GPT5-guidelineprompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease | denotes | MPS IVA |
| T4 | 215-261 | DiseaseClass | denotes | autosomal recessive lysosomal storage disorder |
| T5 | 476-483 | Modifier | denotes | MPS IVA |
| T6 | 593-600 | Modifier | denotes | MPS IVA |
| T7 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Corpus-Moderated1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease | denotes | MPS IVA |
| T4 | 215-261 | DiseaseClass | denotes | autosomal recessive lysosomal storage disorder |
| T5 | 476-483 | Modifier | denotes | MPS IVA |
| T6 | 593-600 | Modifier | denotes | MPS IVA |
| T7 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 9521421-0#119#124#geners118204446 | 119-124 | geners118204446 | denotes | T312S |
| 9521421-0#27#48#diseaseC0026703 | 27-48 | diseaseC0026703 | denotes | mucopolysaccharidosis |
| 9521421-2#77#82#geners118204438 | 420-425 | geners118204438 | denotes | I113F |
| 9521421-2#133#140#diseaseC0086651 | 476-483 | diseaseC0086651 | denotes | MPS IVA |
| 119#124#geners11820444627#48#diseaseC0026703 | 9521421-0#119#124#geners118204446 | 9521421-0#27#48#diseaseC0026703 | associated_with | T312S,mucopolysaccharidosis |
| 77#82#geners118204438133#140#diseaseC0086651 | 9521421-2#77#82#geners118204438 | 9521421-2#133#140#diseaseC0086651 | associated_with | I113F,MPS IVA |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease:OMIM:253000 | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease:OMIM:253000 | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease:OMIM:253000 | denotes | MPS IVA |
| T4 | 215-261 | DiseaseClass:D016464 | denotes | autosomal recessive lysosomal storage disorder |
| T5 | 274-288 | DiseaseClass:D030342 | denotes | genetic defect |
| T6 | 476-483 | Modifier:OMIM:253000 | denotes | MPS IVA |
| T7 | 593-600 | Modifier:OMIM:253000 | denotes | MPS IVA |
| T8 | 1889-1896 | SpecificDisease:OMIM:253000 | denotes | MPS IVA |
NCBI-Disease-Test
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T515 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA | OMIM:253000 |
| T516 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA | OMIM:253000 |
| T517 | 200-207 | SpecificDisease | denotes | MPS IVA | OMIM:253000 |
| T518 | 215-261 | DiseaseClass | denotes | autosomal recessive lysosomal storage disorder | D016464 |
| T519 | 274-288 | DiseaseClass | denotes | genetic defect | D030342 |
| T520 | 476-483 | Modifier | denotes | MPS IVA | OMIM:253000 |
| T521 | 593-600 | Modifier | denotes | MPS IVA | OMIM:253000 |
| T522 | 1889-1896 | SpecificDisease | denotes | MPS IVA | OMIM:253000 |
NCBI-Disease-Test-Assistant-Knowledge
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-208 | SpecificDisease | denotes | Mucopolysaccharidosis IVA (MPS IVA) |
| T3 | 235-261 | DiseaseClass | denotes | lysosomal storage disorder |
| T4 | 476-483 | SpecificDisease | denotes | MPS IVA |
| T5 | 593-600 | SpecificDisease | denotes | MPS IVA |
| T6 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Test-4o-NoGuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-208 | SpecificDisease | denotes | Mucopolysaccharidosis IVA (MPS IVA) |
| T3 | 476-483 | SpecificDisease | denotes | MPS IVA |
| T4 | 508-514 | Modifier | denotes | severe |
| T5 | 593-600 | SpecificDisease | denotes | MPS IVA |
| T6 | 690-696 | Modifier | denotes | severe |
| T7 | 708-720 | Modifier | denotes | intermediate |
| T8 | 731-735 | Modifier | denotes | mild |
| T9 | 921-927 | Modifier | denotes | milder |
| T10 | 998-1004 | Modifier | denotes | severe |
| T11 | 1260-1264 | Modifier | denotes | mild |
| T12 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Corpus-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease | denotes | MPS IVA |
| T4 | 235-261 | DiseaseClass | denotes | lysosomal storage disorder |
| T5 | 476-483 | SpecificDisease | denotes | MPS IVA |
| T6 | 593-600 | SpecificDisease | denotes | MPS IVA |
| T7 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Corpus-high-o3-1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease | denotes | MPS IVA |
| T4 | 476-483 | Modifier | denotes | MPS IVA |
| T5 | 593-600 | Modifier | denotes | MPS IVA |
| T6 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Corpus-high-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease | denotes | MPS IVA |
| T4 | 476-483 | SpecificDisease | denotes | MPS IVA |
| T5 | 593-600 | SpecificDisease | denotes | MPS IVA |
| T6 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Test-4o-GuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-208 | SpecificDisease | denotes | Mucopolysaccharidosis IVA (MPS IVA) |
| T3 | 476-483 | SpecificDisease | denotes | MPS IVA |
| T4 | 593-600 | SpecificDisease | denotes | MPS IVA |
| T5 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Corpus-UpdatedGuideline
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease | denotes | MPS IVA |
| T4 | 215-261 | DiseaseClass | denotes | autosomal recessive lysosomal storage disorder |
| T5 | 476-483 | SpecificDisease | denotes | MPS IVA |
| T6 | 593-600 | SpecificDisease | denotes | MPS IVA |
| T7 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Corpus-humanintheloop
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease | denotes | MPS IVA |
| T4 | 476-483 | Modifier | denotes | MPS IVA |
| T5 | 593-600 | Modifier | denotes | MPS IVA |
| T6 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Corpus-rezarta1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease | denotes | MPS IVA |
| T4 | 476-483 | Modifier | denotes | MPS IVA |
| T5 | 593-600 | Modifier | denotes | MPS IVA |
| T6 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T515 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA | OMIM:253000 |
| T516 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA | OMIM:253000 |
| T517 | 200-207 | SpecificDisease | denotes | MPS IVA | OMIM:253000 |
| T518 | 215-261 | DiseaseClass | denotes | autosomal recessive lysosomal storage disorder | D016464 |
| T519 | 274-288 | DiseaseClass | denotes | genetic defect | D030342 |
| T520 | 476-483 | Modifier | denotes | MPS IVA | OMIM:253000 |
| T521 | 593-600 | Modifier | denotes | MPS IVA | OMIM:253000 |
| T522 | 1889-1896 | SpecificDisease | denotes | MPS IVA | OMIM:253000 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease | denotes | MPS IVA |
| T4 | 476-483 | Modifier | denotes | MPS IVA |
| T5 | 593-600 | Modifier | denotes | MPS IVA |
| T6 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease | denotes | MPS IVA |
| T4 | 476-483 | Modifier | denotes | MPS IVA |
| T5 | 593-600 | Modifier | denotes | MPS IVA |
| T6 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-208 | SpecificDisease | denotes | Mucopolysaccharidosis IVA (MPS IVA) |
| T3 | 476-483 | SpecificDisease | denotes | MPS IVA |
| T4 | 593-600 | SpecificDisease | denotes | MPS IVA |
| T5 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-208 | SpecificDisease | denotes | Mucopolysaccharidosis IVA (MPS IVA) |
| T3 | 235-261 | DiseaseClass | denotes | lysosomal storage disorder |
| T4 | 379-392 | Modifier | denotes | British-Irish |
| T5 | 476-483 | SpecificDisease | denotes | MPS IVA |
| T6 | 508-514 | Modifier | denotes | severe |
| T7 | 593-600 | SpecificDisease | denotes | MPS IVA |
| T8 | 690-696 | Modifier | denotes | severe |
| T9 | 708-720 | Modifier | denotes | intermediate |
| T10 | 731-735 | Modifier | denotes | mild |
| T11 | 921-927 | Modifier | denotes | milder |
| T12 | 998-1004 | Modifier | denotes | severe |
| T13 | 1260-1264 | Modifier | denotes | mild |
| T14 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
| T15 | 1900-1913 | Modifier | denotes | British-Irish |
| T16 | 1983-1996 | Modifier | denotes | British-Irish |
123456
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease | denotes | MPS IVA |
| T4 | 476-483 | Modifier | denotes | MPS IVA |
| T5 | 593-600 | Modifier | denotes | MPS IVA |
| T6 | 1889-1896 | SpecificDisease | denotes | MPS IVA |
12345
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 27-52 | SpecificDisease | denotes | mucopolysaccharidosis IVA |
| T2 | 173-198 | SpecificDisease | denotes | Mucopolysaccharidosis IVA |
| T3 | 200-207 | SpecificDisease | denotes | MPS IVA |
| T4 | 476-483 | SpecificDisease | denotes | MPS IVA |
| T5 | 593-600 | SpecificDisease | denotes | MPS IVA |
| T6 | 1889-1896 | SpecificDisease | denotes | MPS IVA |