PubMed:22219087
Annnotations
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 125-144 | HP_0000007 | denotes | autosomal recessive |
| T2 | 366-384 | HP_0001249 | denotes | mental retardation |
| T3 | 433-450 | HP_0002421 | denotes | poor head control |
| T4 | 460-471 | HP_0000572 | denotes | vision loss |
| T5 | 473-496 | HP_0001324 | denotes | weakness of the muscles |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 38-42 | gene:443 | denotes | ASPA |
| T1 | 50-65 | disease:C0206307 | denotes | Canavan disease |
| T2 | 849-853 | gene:443 | denotes | ASPA |
| T3 | 884-899 | disease:C0206307 | denotes | Canavan disease |
| R1 | T0 | T1 | associated_with | ASPA,Canavan disease |
| R2 | T2 | T3 | associated_with | ASPA,Canavan disease |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 22219087-0#21#28#geners761064915 | 21-28 | geners761064915 | denotes | p.G274R |
| 22219087-0#50#65#diseaseC0206307 | 50-65 | diseaseC0206307 | denotes | Canavan disease |
| 21#28#geners76106491550#65#diseaseC0206307 | 22219087-0#21#28#geners761064915 | 22219087-0#50#65#diseaseC0206307 | associated_with | p.G274R,Canavan disease |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 22219087-0#38#42#gene443 | 38-42 | gene443 | denotes | ASPA |
| 22219087-0#50#65#diseaseC0206307 | 50-65 | diseaseC0206307 | denotes | Canavan disease |
| 38#42#gene44350#65#diseaseC0206307 | 22219087-0#38#42#gene443 | 22219087-0#50#65#diseaseC0206307 | associated_with | ASPA,Canavan disease |