PubMed:1703489
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 44-67 | gene:175 | denotes | aspartylglucosaminidase |
| T1 | 0-22 | disease:C0268225 | denotes | Aspartylglucosaminuria |
| T2 | 682-685 | gene:175 | denotes | AGA |
| T3 | 699-702 | disease:C0268225 | denotes | AGU |
| R1 | T0 | T1 | associated_with | aspartylglucosaminidase,Aspartylglucosaminuria |
| R2 | T2 | T3 | associated_with | AGA,AGU |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 266-288 | HP_0012068 | denotes | aspartylglucosaminuria |
| T2 | 364-389 | HP_0010864 | denotes | severe mental retardation |
| T3 | 371-389 | HP_0001249 | denotes | mental retardation |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1703489-5#122#146#geners121964904 | 773-797 | geners121964904 | denotes | cysteine 163 with serine |
| 1703489-5#48#51#diseaseC0268225 | 699-702 | diseaseC0268225 | denotes | AGU |
| 122#146#geners12196490448#51#diseaseC0268225 | 1703489-5#122#146#geners121964904 | 1703489-5#48#51#diseaseC0268225 | associated_with | cysteine 163 with serine,AGU |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1703489-0#44#67#gene175 | 44-67 | gene175 | denotes | aspartylglucosaminidase |
| 1703489-0#0#22#diseaseC0268225 | 0-22 | diseaseC0268225 | denotes | Aspartylglucosaminuria |
| 44#67#gene1750#22#diseaseC0268225 | 1703489-0#44#67#gene175 | 1703489-0#0#22#diseaseC0268225 | associated_with | aspartylglucosaminidase,Aspartylglucosaminuria |