PubMed:18442119
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 85-96 | gene:2896 | denotes | Progranulin |
| T1 | 125-193 | disease:C0338451 | denotes | frontotemporal lobar degeneration with ubiquitin-positive inclusions |
| T2 | 85-96 | gene:2896 | denotes | Progranulin |
| T3 | 125-193 | disease:C1843792 | denotes | frontotemporal lobar degeneration with ubiquitin-positive inclusions |
| T4 | 85-96 | gene:2896 | denotes | Progranulin |
| T5 | 195-201 | disease:C0338451 | denotes | FTLD-U |
| T6 | 85-96 | gene:2896 | denotes | Progranulin |
| T7 | 195-201 | disease:C1843792 | denotes | FTLD-U |
| R1 | T0 | T1 | associated_with | Progranulin,frontotemporal lobar degeneration with ubiquitin-positive inclusions |
| R2 | T2 | T3 | associated_with | Progranulin,frontotemporal lobar degeneration with ubiquitin-positive inclusions |
| R3 | T4 | T5 | associated_with | Progranulin,FTLD-U |
| R4 | T6 | T7 | associated_with | Progranulin,FTLD-U |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 18442119-4#34#41#geners63751243 | 576-583 | geners63751243 | denotes | c.26C>A |
| 18442119-4#82#92#diseaseC0038506 | 624-634 | diseaseC0038506 | denotes | stuttering |
| 18442119-4#93#103#diseaseC0013362 | 635-645 | diseaseC0013362 | denotes | dysarthria |
| 34#41#geners6375124382#92#diseaseC0038506 | 18442119-4#34#41#geners63751243 | 18442119-4#82#92#diseaseC0038506 | associated_with | c.26C>A,stuttering |
| 34#41#geners6375124393#103#diseaseC0013362 | 18442119-4#34#41#geners63751243 | 18442119-4#93#103#diseaseC0013362 | associated_with | c.26C>A,dysarthria |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 18442119-1#0#11#gene2896 | 85-96 | gene2896 | denotes | Progranulin |
| 18442119-1#40#108#diseaseC0338451 | 125-193 | diseaseC0338451 | denotes | frontotemporal lobar degeneration with ubiquitin-positive inclusions |
| 18442119-1#40#108#diseaseC1843792 | 125-193 | diseaseC1843792 | denotes | frontotemporal lobar degeneration with ubiquitin-positive inclusions |
| 18442119-1#110#116#diseaseC0338451 | 195-201 | diseaseC0338451 | denotes | FTLD-U |
| 18442119-1#110#116#diseaseC1843792 | 195-201 | diseaseC1843792 | denotes | FTLD-U |
| 0#11#gene289640#108#diseaseC0338451 | 18442119-1#0#11#gene2896 | 18442119-1#40#108#diseaseC0338451 | associated_with | Progranulin,frontotemporal lobar degeneration with ubiquitin-positive inclusions |
| 0#11#gene289640#108#diseaseC1843792 | 18442119-1#0#11#gene2896 | 18442119-1#40#108#diseaseC1843792 | associated_with | Progranulin,frontotemporal lobar degeneration with ubiquitin-positive inclusions |
| 0#11#gene2896110#116#diseaseC0338451 | 18442119-1#0#11#gene2896 | 18442119-1#110#116#diseaseC0338451 | associated_with | Progranulin,FTLD-U |
| 0#11#gene2896110#116#diseaseC1843792 | 18442119-1#0#11#gene2896 | 18442119-1#110#116#diseaseC1843792 | associated_with | Progranulin,FTLD-U |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 236-259 | HP:0002145 | denotes | frontotemporal dementia |
| AB2 | 624-634 | HP:0025268 | denotes | stuttering |
| AB3 | 635-645 | HP:0001260 | denotes | dysarthria |
| AB4 | 714-726 | HP:0001300 | denotes | parkinsonism |
| AB5 | 798-821 | HP:0002145 | denotes | frontotemporal dementia |
| AB6 | 1003-1010 | HP:0002171 | denotes | gliosis |