PubMed:9427148
Annnotations
NCBI-Disease-Corpus-GPT5-withguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-22 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T3 | 72-75 | SpecificDisease | denotes | AGU |
| T4 | 87-122 | DiseaseClass | denotes | disorder of glycoprotein metabolism |
| T5 | 137-195 | SpecificDisease | denotes | deficiency of the lysosomal enzyme aspartylglucosaminidase |
| T6 | 203-206 | SpecificDisease | denotes | AGU |
| T7 | 354-357 | SpecificDisease | denotes | AGU |
| T8 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Corpus-GPT5-noguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-22 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T3 | 72-75 | SpecificDisease | denotes | AGU |
| T4 | 82-86 | Modifier | denotes | rare |
| T5 | 87-122 | DiseaseClass | denotes | disorder of glycoprotein metabolism |
| T6 | 137-195 | DiseaseClass | denotes | deficiency of the lysosomal enzyme aspartylglucosaminidase |
| T7 | 203-206 | SpecificDisease | denotes | AGU |
| T8 | 354-357 | SpecificDisease | denotes | AGU |
| T9 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Corpus-GPT5-guidelineprompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-22 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T3 | 72-75 | SpecificDisease | denotes | AGU |
| T4 | 87-122 | DiseaseClass | denotes | disorder of glycoprotein metabolism |
| T5 | 137-195 | SpecificDisease | denotes | deficiency of the lysosomal enzyme aspartylglucosaminidase |
| T6 | 203-206 | SpecificDisease | denotes | AGU |
| T7 | 354-357 | SpecificDisease | denotes | AGU |
| T8 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Corpus-Moderated1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-22 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 72-75 | SpecificDisease | denotes | AGU |
| T3 | 87-122 | DiseaseClass | denotes | disorder of glycoprotein metabolism |
| T4 | 137-195 | SpecificDisease | denotes | deficiency of the lysosomal enzyme aspartylglucosaminidase |
| T5 | 203-206 | SpecificDisease | denotes | AGU |
| T6 | 354-357 | SpecificDisease | denotes | AGU |
| T7 | 559-562 | SpecificDisease | denotes | AGU |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-47 | Sentence | denotes | Aspartylglucosaminuria among Palestinian Arabs. |
| TextSentencer_T2 | 48-202 | Sentence | denotes | Aspartylglucosaminuria (AGU) is a rare disorder of glycoprotein metabolism caused by the deficiency of the lysosomal enzyme aspartylglucosaminidase (AGA). |
| TextSentencer_T3 | 203-324 | Sentence | denotes | AGU is inherited as an autosomal recessive trait and occurs with a high frequency in Finland because of a founder effect. |
| TextSentencer_T4 | 325-532 | Sentence | denotes | While very few patients with AGU have been reported from non-Finnish origin, we diagnosed the disorder in 8 patients originating from 3 unrelated families, all Palestinian Arabs from the region of Jerusalem. |
| TextSentencer_T5 | 533-697 | Sentence | denotes | The clinical diagnosis of AGU is often difficult, in particular early in the course of the disease, and most of the patients are diagnosed after the age of 5 years. |
| TextSentencer_T6 | 698-843 | Sentence | denotes | However, since these patients excrete early large amounts of aspartylglucosamine in urine, biochemical screening is easy by urine chromatography. |
| T1 | 0-47 | Sentence | denotes | Aspartylglucosaminuria among Palestinian Arabs. |
| T2 | 48-202 | Sentence | denotes | Aspartylglucosaminuria (AGU) is a rare disorder of glycoprotein metabolism caused by the deficiency of the lysosomal enzyme aspartylglucosaminidase (AGA). |
| T3 | 203-324 | Sentence | denotes | AGU is inherited as an autosomal recessive trait and occurs with a high frequency in Finland because of a founder effect. |
| T4 | 325-532 | Sentence | denotes | While very few patients with AGU have been reported from non-Finnish origin, we diagnosed the disorder in 8 patients originating from 3 unrelated families, all Palestinian Arabs from the region of Jerusalem. |
| T5 | 533-697 | Sentence | denotes | The clinical diagnosis of AGU is often difficult, in particular early in the course of the disease, and most of the patients are diagnosed after the age of 5 years. |
| T6 | 698-843 | Sentence | denotes | However, since these patients excrete early large amounts of aspartylglucosamine in urine, biochemical screening is easy by urine chromatography. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 172-195 | gene:175 | denotes | aspartylglucosaminidase |
| T1 | 48-70 | disease:C0268225 | denotes | Aspartylglucosaminuria |
| T2 | 172-195 | gene:175 | denotes | aspartylglucosaminidase |
| T3 | 72-75 | disease:C0268225 | denotes | AGU |
| T4 | 172-195 | gene:175 | denotes | aspartylglucosaminidase |
| T5 | 82-95 | disease:C0678236 | denotes | rare disorder |
| T6 | 197-200 | gene:175 | denotes | AGA |
| T7 | 48-70 | disease:C0268225 | denotes | Aspartylglucosaminuria |
| T8 | 197-200 | gene:175 | denotes | AGA |
| T9 | 72-75 | disease:C0268225 | denotes | AGU |
| T10 | 197-200 | gene:175 | denotes | AGA |
| T11 | 82-95 | disease:C0678236 | denotes | rare disorder |
| R1 | T0 | T1 | associated_with | aspartylglucosaminidase,Aspartylglucosaminuria |
| R2 | T2 | T3 | associated_with | aspartylglucosaminidase,AGU |
| R3 | T4 | T5 | associated_with | aspartylglucosaminidase,rare disorder |
| R4 | T6 | T7 | associated_with | AGA,Aspartylglucosaminuria |
| R5 | T8 | T9 | associated_with | AGA,AGU |
| R6 | T10 | T11 | associated_with | AGA,rare disorder |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 9427148-1#124#147#gene175 | 172-195 | gene175 | denotes | aspartylglucosaminidase |
| 9427148-1#149#152#gene175 | 197-200 | gene175 | denotes | AGA |
| 9427148-1#0#22#diseaseC0268225 | 48-70 | diseaseC0268225 | denotes | Aspartylglucosaminuria |
| 9427148-1#24#27#diseaseC0268225 | 72-75 | diseaseC0268225 | denotes | AGU |
| 124#147#gene1750#22#diseaseC0268225 | 9427148-1#124#147#gene175 | 9427148-1#0#22#diseaseC0268225 | associated_with | aspartylglucosaminidase,Aspartylglucosaminuria |
| 124#147#gene17524#27#diseaseC0268225 | 9427148-1#124#147#gene175 | 9427148-1#24#27#diseaseC0268225 | associated_with | aspartylglucosaminidase,AGU |
| 149#152#gene1750#22#diseaseC0268225 | 9427148-1#149#152#gene175 | 9427148-1#0#22#diseaseC0268225 | associated_with | AGA,Aspartylglucosaminuria |
| 149#152#gene17524#27#diseaseC0268225 | 9427148-1#149#152#gene175 | 9427148-1#24#27#diseaseC0268225 | associated_with | AGA,AGU |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 48-70 | HP:0012068 | denotes | Aspartylglucosaminuria |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 782-787 | http://purl.obolibrary.org/obo/UBERON_0001088 | denotes | urine |
| PD-UBERON-AE-B_T2 | 822-827 | http://purl.obolibrary.org/obo/UBERON_0001088 | denotes | urine |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 48-70 | ORDO:93 | denotes | Aspartylglucosaminuria |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 782-787 | http://purl.obolibrary.org/obo/UBERON_0001088 | denotes | urine |
| PD-UBERON-AE-B_T2 | 822-827 | http://purl.obolibrary.org/obo/UBERON_0001088 | denotes | urine |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-22 | SpecificDisease:D054880 | denotes | Aspartylglucosaminuria |
| T2 | 48-70 | SpecificDisease:D054880 | denotes | Aspartylglucosaminuria |
| T3 | 72-75 | SpecificDisease:D054880 | denotes | AGU |
| T4 | 87-122 | DiseaseClass:D008661 | denotes | disorder of glycoprotein metabolism |
| T5 | 137-195 | SpecificDisease:D054880 | denotes | deficiency of the lysosomal enzyme aspartylglucosaminidase |
| T6 | 203-206 | SpecificDisease:D054880 | denotes | AGU |
| T7 | 354-357 | SpecificDisease:D054880 | denotes | AGU |
| T8 | 559-562 | SpecificDisease:D054880 | denotes | AGU |
NCBI-Disease-Test
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T205 | 0-22 | SpecificDisease | denotes | Aspartylglucosaminuria | D054880 |
| T206 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria | D054880 |
| T207 | 72-75 | SpecificDisease | denotes | AGU | D054880 |
| T208 | 87-122 | DiseaseClass | denotes | disorder of glycoprotein metabolism | D008661 |
| T209 | 137-195 | SpecificDisease | denotes | deficiency of the lysosomal enzyme aspartylglucosaminidase | D054880 |
| T210 | 203-206 | SpecificDisease | denotes | AGU | D054880 |
| T211 | 354-357 | SpecificDisease | denotes | AGU | D054880 |
| T212 | 559-562 | SpecificDisease | denotes | AGU | D054880 |
NCBI-Disease-Test-Assistant-Knowledge
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 48-76 | SpecificDisease | denotes | Aspartylglucosaminuria (AGU) |
| T2 | 203-206 | SpecificDisease | denotes | AGU |
| T3 | 354-357 | SpecificDisease | denotes | AGU |
| T4 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Test-4o-NoGuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 48-76 | SpecificDisease | denotes | Aspartylglucosaminuria (AGU) |
| T2 | 203-206 | SpecificDisease | denotes | AGU |
| T3 | 354-357 | SpecificDisease | denotes | AGU |
| T4 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Corpus-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-22 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T3 | 72-75 | SpecificDisease | denotes | AGU |
| T4 | 203-206 | SpecificDisease | denotes | AGU |
| T5 | 354-357 | SpecificDisease | denotes | AGU |
| T6 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Corpus-high-o3-1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-22 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T3 | 72-75 | SpecificDisease | denotes | AGU |
| T4 | 203-206 | SpecificDisease | denotes | AGU |
| T5 | 354-357 | SpecificDisease | denotes | AGU |
| T6 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Corpus-high-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-22 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T3 | 72-75 | SpecificDisease | denotes | AGU |
| T4 | 203-206 | SpecificDisease | denotes | AGU |
| T5 | 354-357 | SpecificDisease | denotes | AGU |
| T6 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Test-4o-GuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 203-206 | SpecificDisease | denotes | AGU |
| T3 | 354-357 | SpecificDisease | denotes | AGU |
| T4 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Corpus-UpdatedGuideline
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-22 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T3 | 72-75 | SpecificDisease | denotes | AGU |
| T4 | 203-206 | SpecificDisease | denotes | AGU |
| T5 | 226-251 | DiseaseClass | denotes | autosomal recessive trait |
| T6 | 354-357 | SpecificDisease | denotes | AGU |
| T7 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Corpus-humanintheloop
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 72-75 | SpecificDisease | denotes | AGU |
| T3 | 203-206 | SpecificDisease | denotes | AGU |
| T4 | 354-357 | SpecificDisease | denotes | AGU |
| T5 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Corpus-rezarta1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 203-206 | SpecificDisease | denotes | AGU |
| T3 | 354-357 | SpecificDisease | denotes | AGU |
| T4 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T205 | 0-22 | SpecificDisease | denotes | Aspartylglucosaminuria | D054880 |
| T206 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria | D054880 |
| T207 | 72-75 | SpecificDisease | denotes | AGU | D054880 |
| T208 | 87-122 | DiseaseClass | denotes | disorder of glycoprotein metabolism | D008661 |
| T209 | 137-195 | SpecificDisease | denotes | deficiency of the lysosomal enzyme aspartylglucosaminidase | D054880 |
| T210 | 203-206 | SpecificDisease | denotes | AGU | D054880 |
| T211 | 354-357 | SpecificDisease | denotes | AGU | D054880 |
| T212 | 559-562 | SpecificDisease | denotes | AGU | D054880 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 72-75 | SpecificDisease | denotes | AGU |
| T3 | 203-206 | SpecificDisease | denotes | AGU |
| T4 | 354-357 | SpecificDisease | denotes | AGU |
| T5 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 203-206 | SpecificDisease | denotes | AGU |
| T3 | 354-357 | SpecificDisease | denotes | AGU |
| T4 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 48-76 | SpecificDisease | denotes | Aspartylglucosaminuria (AGU) |
| T2 | 203-206 | SpecificDisease | denotes | AGU |
| T3 | 354-357 | SpecificDisease | denotes | AGU |
| T4 | 559-562 | SpecificDisease | denotes | AGU |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-22 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 48-76 | SpecificDisease | denotes | Aspartylglucosaminuria (AGU) |
| T3 | 203-206 | SpecificDisease | denotes | AGU |
| T4 | 354-357 | SpecificDisease | denotes | AGU |
| T5 | 559-562 | SpecificDisease | denotes | AGU |
123456
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 72-75 | SpecificDisease | denotes | AGU |
| T3 | 203-206 | SpecificDisease | denotes | AGU |
| T4 | 354-357 | SpecificDisease | denotes | AGU |
| T5 | 559-562 | SpecificDisease | denotes | AGU |
12345
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 48-70 | SpecificDisease | denotes | Aspartylglucosaminuria |
| T2 | 72-75 | SpecificDisease | denotes | AGU |
| T3 | 203-206 | SpecificDisease | denotes | AGU |
| T4 | 354-357 | SpecificDisease | denotes | AGU |
| T5 | 559-562 | SpecificDisease | denotes | AGU |