PubMed:1722323
Annnotations
PMID_GLOBAL
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 25-47 | DiseaseOrPhenotypicFeature | denotes | aspartylglucosaminuria | 0008830 |
| T2 | 49-71 | DiseaseOrPhenotypicFeature | denotes | Aspartylglucosaminuria | 0008830 |
| T3 | 73-76 | DiseaseOrPhenotypicFeature | denotes | AGU | 0008830 |
| T4 | 94-120 | DiseaseOrPhenotypicFeature | denotes | lysosomal storage disorder | 0002561 |
| T5 | 275-278 | DiseaseOrPhenotypicFeature | denotes | AGU | 0008830 |
| T6 | 364-367 | DiseaseOrPhenotypicFeature | denotes | AGU | 0008830 |
| T7 | 414-417 | DiseaseOrPhenotypicFeature | denotes | AGU | 0008830 |
| T8 | 498-501 | DiseaseOrPhenotypicFeature | denotes | AGU | 0008830 |
| T9 | 582-585 | DiseaseOrPhenotypicFeature | denotes | AGU | 0008830 |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 149-172 | gene:175 | denotes | aspartylglucosaminidase |
| T1 | 49-71 | disease:C0268225 | denotes | Aspartylglucosaminuria |
| T2 | 149-172 | gene:175 | denotes | aspartylglucosaminidase |
| T3 | 73-76 | disease:C0268225 | denotes | AGU |
| T4 | 149-172 | gene:175 | denotes | aspartylglucosaminidase |
| T5 | 94-120 | disease:C0085078 | denotes | lysosomal storage disorder |
| R1 | T0 | T1 | associated_with | aspartylglucosaminidase,Aspartylglucosaminuria |
| R2 | T2 | T3 | associated_with | aspartylglucosaminidase,AGU |
| R3 | T4 | T5 | associated_with | aspartylglucosaminidase,lysosomal storage disorder |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 49-71 | HP_0012068 | denotes | Aspartylglucosaminuria |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1722323-2#53#66#geners121964904 | 227-240 | geners121964904 | denotes | Cys163----Ser |
| 1722323-2#101#104#diseaseC0268225 | 275-278 | diseaseC0268225 | denotes | AGU |
| 1722323-2#190#193#diseaseC0268225 | 364-367 | diseaseC0268225 | denotes | AGU |
| 53#66#geners121964904101#104#diseaseC0268225 | 1722323-2#53#66#geners121964904 | 1722323-2#101#104#diseaseC0268225 | associated_with | Cys163----Ser,AGU |
| 53#66#geners121964904190#193#diseaseC0268225 | 1722323-2#53#66#geners121964904 | 1722323-2#190#193#diseaseC0268225 | associated_with | Cys163----Ser,AGU |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1722323-1#100#123#gene175 | 149-172 | gene175 | denotes | aspartylglucosaminidase |
| 1722323-1#0#22#diseaseC0268225 | 49-71 | diseaseC0268225 | denotes | Aspartylglucosaminuria |
| 1722323-1#24#27#diseaseC0268225 | 73-76 | diseaseC0268225 | denotes | AGU |
| 100#123#gene1750#22#diseaseC0268225 | 1722323-1#100#123#gene175 | 1722323-1#0#22#diseaseC0268225 | associated_with | aspartylglucosaminidase,Aspartylglucosaminuria |
| 100#123#gene17524#27#diseaseC0268225 | 1722323-1#100#123#gene175 | 1722323-1#24#27#diseaseC0268225 | associated_with | aspartylglucosaminidase,AGU |