PubMed:9634518
Annnotations
NCBI-Disease-Corpus-GPT5-withguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | SpecificDisease | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease | denotes | PKU |
| T4 | 203-229 | SpecificDisease | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease | denotes | MHP |
| T6 | 413-427 | SpecificDisease | denotes | PAH deficiency |
| T7 | 1439-1453 | SpecificDisease | denotes | PAH deficiency |
| T8 | 1635-1656 | DiseaseClass | denotes | hyperphenylalaninemia |
NCBI-Disease-Corpus-GPT5-noguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-198 | SpecificDisease | denotes | Phenylketonuria (PKU) |
| T3 | 203-207 | Modifier | denotes | mild |
| T4 | 208-235 | SpecificDisease | denotes | hyperphenylalaninemia (MHP) |
| T5 | 413-427 | SpecificDisease | denotes | PAH deficiency |
| T6 | 1439-1453 | SpecificDisease | denotes | PAH deficiency |
| T7 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia |
NCBI-Disease-Corpus-GPT5-guidelineprompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | SpecificDisease | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease | denotes | PKU |
| T4 | 203-229 | SpecificDisease | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease | denotes | MHP |
| T6 | 413-427 | SpecificDisease | denotes | PAH deficiency |
| T7 | 1439-1453 | SpecificDisease | denotes | PAH deficiency |
| T8 | 1635-1656 | DiseaseClass | denotes | hyperphenylalaninemia |
NCBI-Disease-Corpus-Moderated1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | SpecificDisease | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease | denotes | PKU |
| T4 | 203-229 | SpecificDisease | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease | denotes | MHP |
| T6 | 240-257 | DiseaseClass | denotes | allelic disorders |
| T7 | 413-427 | SpecificDisease | denotes | PAH deficiency |
| T8 | 1439-1453 | SpecificDisease | denotes | PAH deficiency |
| T9 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 1503-1506 | gene:5053 | denotes | PAH |
| T1 | 1635-1656 | disease:C0751435 | denotes | hyperphenylalaninemia |
| R1 | T0 | T1 | associated_with | PAH,hyperphenylalaninemia |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 9634518-1#122#147#gene5053 | 299-324 | gene5053 | denotes | phenylalanine hydroxylase |
| 9634518-1#149#152#gene5053 | 326-329 | gene5053 | denotes | PAH |
| 9634518-1#0#15#diseaseC0031485 | 177-192 | diseaseC0031485 | denotes | Phenylketonuria |
| 9634518-1#17#20#diseaseC0031485 | 194-197 | diseaseC0031485 | denotes | PKU |
| 9634518-1#0#15#diseaseC0031485 | 177-192 | diseaseC0031485 | denotes | Phenylketonuria |
| 9634518-1#17#20#diseaseC0031485 | 194-197 | diseaseC0031485 | denotes | PKU |
| 9634518-8#27#30#gene5053 | 1348-1351 | gene5053 | denotes | PAH |
| 9634518-8#118#132#diseaseC0751434 | 1439-1453 | diseaseC0751434 | denotes | PAH deficiency |
| 9634518-9#48#51#gene5053 | 1503-1506 | gene5053 | denotes | PAH |
| 9634518-9#180#201#diseaseC0751435 | 1635-1656 | diseaseC0751435 | denotes | hyperphenylalaninemia |
| 122#147#gene50530#15#diseaseC0031485 | 9634518-1#122#147#gene5053 | 9634518-1#0#15#diseaseC0031485 | associated_with | phenylalanine hydroxylase,Phenylketonuria |
| 122#147#gene505317#20#diseaseC0031485 | 9634518-1#122#147#gene5053 | 9634518-1#17#20#diseaseC0031485 | associated_with | phenylalanine hydroxylase,PKU |
| 122#147#gene50530#15#diseaseC0031485 | 9634518-1#122#147#gene5053 | 9634518-1#0#15#diseaseC0031485 | associated_with | phenylalanine hydroxylase,Phenylketonuria |
| 122#147#gene505317#20#diseaseC0031485 | 9634518-1#122#147#gene5053 | 9634518-1#17#20#diseaseC0031485 | associated_with | phenylalanine hydroxylase,PKU |
| 149#152#gene50530#15#diseaseC0031485 | 9634518-1#149#152#gene5053 | 9634518-1#0#15#diseaseC0031485 | associated_with | PAH,Phenylketonuria |
| 149#152#gene505317#20#diseaseC0031485 | 9634518-1#149#152#gene5053 | 9634518-1#17#20#diseaseC0031485 | associated_with | PAH,PKU |
| 149#152#gene50530#15#diseaseC0031485 | 9634518-1#149#152#gene5053 | 9634518-1#0#15#diseaseC0031485 | associated_with | PAH,Phenylketonuria |
| 149#152#gene505317#20#diseaseC0031485 | 9634518-1#149#152#gene5053 | 9634518-1#17#20#diseaseC0031485 | associated_with | PAH,PKU |
| 27#30#gene5053118#132#diseaseC0751434 | 9634518-8#27#30#gene5053 | 9634518-8#118#132#diseaseC0751434 | associated_with | PAH,PAH deficiency |
| 48#51#gene5053180#201#diseaseC0751435 | 9634518-9#48#51#gene5053 | 9634518-9#180#201#diseaseC0751435 | associated_with | PAH,hyperphenylalaninemia |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease:OMIM:261600 | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | SpecificDisease:D010661 | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease:D010661 | denotes | PKU |
| T4 | 203-229 | SpecificDisease:D010661 | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease:D010661 | denotes | MHP |
| T6 | 240-257 | DiseaseClass:D030342 | denotes | allelic disorders |
| T7 | 413-427 | SpecificDisease:OMIM:261600 | denotes | PAH deficiency |
| T8 | 1439-1453 | SpecificDisease:OMIM:261600 | denotes | PAH deficiency |
| T9 | 1635-1656 | SpecificDisease:D010661 | denotes | hyperphenylalaninemia |
NCBI-Disease-Test
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T38 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency | OMIM:261600 |
| T39 | 177-192 | SpecificDisease | denotes | Phenylketonuria | D010661 |
| T40 | 194-197 | SpecificDisease | denotes | PKU | D010661 |
| T41 | 203-229 | SpecificDisease | denotes | mild hyperphenylalaninemia | D010661 |
| T42 | 231-234 | SpecificDisease | denotes | MHP | D010661 |
| T43 | 240-257 | DiseaseClass | denotes | allelic disorders | D030342 |
| T44 | 413-427 | SpecificDisease | denotes | PAH deficiency | OMIM:261600 |
| T45 | 1439-1453 | SpecificDisease | denotes | PAH deficiency | OMIM:261600 |
| T46 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia | D010661 |
NCBI-Disease-Test-Assistant-Knowledge
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | DiseaseClass | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-198 | SpecificDisease | denotes | Phenylketonuria (PKU) |
| T3 | 203-235 | SpecificDisease | denotes | mild hyperphenylalaninemia (MHP) |
| T4 | 413-427 | DiseaseClass | denotes | PAH deficiency |
| T5 | 1439-1453 | DiseaseClass | denotes | PAH deficiency |
| T6 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia |
NCBI-Disease-Test-4o-NoGuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-198 | SpecificDisease | denotes | Phenylketonuria (PKU) |
| T3 | 203-235 | SpecificDisease | denotes | mild hyperphenylalaninemia (MHP) |
| T4 | 413-427 | SpecificDisease | denotes | PAH deficiency |
| T5 | 1439-1453 | SpecificDisease | denotes | PAH deficiency |
| T6 | 1635-1656 | DiseaseClass | denotes | hyperphenylalaninemia |
NCBI-Disease-Corpus-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | SpecificDisease | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease | denotes | PKU |
| T4 | 203-229 | SpecificDisease | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease | denotes | MHP |
| T6 | 413-427 | SpecificDisease | denotes | PAH deficiency |
| T7 | 1439-1453 | SpecificDisease | denotes | PAH deficiency |
| T8 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia |
NCBI-Disease-Corpus-high-o3-1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | SpecificDisease | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease | denotes | PKU |
| T4 | 203-229 | SpecificDisease | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease | denotes | MHP |
| T6 | 413-427 | SpecificDisease | denotes | PAH deficiency |
| T7 | 1439-1453 | SpecificDisease | denotes | PAH deficiency |
| T8 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia |
NCBI-Disease-Corpus-high-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | SpecificDisease | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease | denotes | PKU |
| T4 | 203-229 | SpecificDisease | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease | denotes | MHP |
| T6 | 1439-1453 | SpecificDisease | denotes | PAH deficiency |
| T7 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia |
NCBI-Disease-Test-4o-GuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | SpecificDisease | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease | denotes | PKU |
| T4 | 203-229 | SpecificDisease | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease | denotes | MHP |
| T6 | 413-427 | SpecificDisease | denotes | PAH deficiency |
| T7 | 1439-1453 | SpecificDisease | denotes | PAH deficiency |
| T8 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia |
NCBI-Disease-Corpus-UpdatedGuideline
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | DiseaseClass | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | SpecificDisease | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease | denotes | PKU |
| T4 | 203-229 | SpecificDisease | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease | denotes | MHP |
| T6 | 413-427 | DiseaseClass | denotes | PAH deficiency |
| T7 | 1439-1453 | DiseaseClass | denotes | PAH deficiency |
| T8 | 1635-1656 | DiseaseClass | denotes | hyperphenylalaninemia |
NCBI-Disease-Corpus-humanintheloop
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | CompositeMention | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease | denotes | PKU |
| T4 | 203-229 | CompositeMention | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease | denotes | MHP |
| T6 | 413-427 | SpecificDisease | denotes | PAH deficiency |
| T7 | 1439-1453 | SpecificDisease | denotes | PAH deficiency |
| T8 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia |
NCBI-Disease-Corpus-rezarta1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | SpecificDisease | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease | denotes | PKU |
| T4 | 203-229 | SpecificDisease | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease | denotes | MHP |
| T6 | 326-329 | Modifier | denotes | PAH |
| T7 | 413-427 | SpecificDisease | denotes | PAH deficiency |
| T8 | 443-446 | Modifier | denotes | PAH |
| T9 | 1348-1351 | Modifier | denotes | PAH |
| T10 | 1439-1453 | SpecificDisease | denotes | PAH deficiency |
| T11 | 1503-1506 | Modifier | denotes | PAH |
| T12 | 1635-1656 | DiseaseClass | denotes | hyperphenylalaninemia |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T38 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency | OMIM:261600 |
| T39 | 177-192 | SpecificDisease | denotes | Phenylketonuria | D010661 |
| T40 | 194-197 | SpecificDisease | denotes | PKU | D010661 |
| T41 | 203-229 | SpecificDisease | denotes | mild hyperphenylalaninemia | D010661 |
| T42 | 231-234 | SpecificDisease | denotes | MHP | D010661 |
| T43 | 240-257 | DiseaseClass | denotes | allelic disorders | D030342 |
| T44 | 413-427 | SpecificDisease | denotes | PAH deficiency | OMIM:261600 |
| T45 | 1439-1453 | SpecificDisease | denotes | PAH deficiency | OMIM:261600 |
| T46 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia | D010661 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | DiseaseClass | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | SpecificDisease | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease | denotes | PKU |
| T4 | 203-229 | SpecificDisease | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease | denotes | MHP |
| T6 | 413-427 | DiseaseClass | denotes | PAH deficiency |
| T7 | 1439-1453 | DiseaseClass | denotes | PAH deficiency |
| T8 | 1635-1656 | DiseaseClass | denotes | hyperphenylalaninemia |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | DiseaseClass | denotes | Phenylketonuria |
| T3 | 194-197 | Modifier | denotes | PKU |
| T4 | 203-229 | Modifier | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | Modifier | denotes | MHP |
| T6 | 413-427 | Modifier | denotes | PAH deficiency |
| T7 | 1439-1453 | Modifier | denotes | PAH deficiency |
| T8 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-198 | SpecificDisease | denotes | Phenylketonuria (PKU) |
| T3 | 203-235 | SpecificDisease | denotes | mild hyperphenylalaninemia (MHP) |
| T4 | 413-427 | Modifier | denotes | PAH deficiency |
| T5 | 1348-1369 | Modifier | denotes | PAH-mutation genotype |
| T6 | 1439-1453 | Modifier | denotes | PAH deficiency |
| T7 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-198 | SpecificDisease | denotes | Phenylketonuria (PKU) |
| T3 | 203-235 | SpecificDisease | denotes | mild hyperphenylalaninemia (MHP) |
| T4 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia |
123456
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | CompositeMention | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease | denotes | PKU |
| T4 | 203-229 | CompositeMention | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease | denotes | MHP |
| T6 | 413-427 | SpecificDisease | denotes | PAH deficiency |
| T7 | 1439-1453 | SpecificDisease | denotes | PAH deficiency |
| T8 | 1635-1656 | SpecificDisease | denotes | hyperphenylalaninemia |
12345
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-68 | SpecificDisease | denotes | phenylalanine hydroxylase deficiency |
| T2 | 177-192 | SpecificDisease | denotes | Phenylketonuria |
| T3 | 194-197 | SpecificDisease | denotes | PKU |
| T4 | 203-229 | SpecificDisease | denotes | mild hyperphenylalaninemia |
| T5 | 231-234 | SpecificDisease | denotes | MHP |
| T6 | 413-427 | SpecificDisease | denotes | PAH deficiency |
| T7 | 1439-1453 | SpecificDisease | denotes | PAH deficiency |
| T8 | 1635-1656 | DiseaseClass | denotes | hyperphenylalaninemia |