PubMed:1774074
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 273-307 | gene:6261 | denotes | skeletal muscle ryanodine receptor |
| T1 | 357-359 | disease:C0024591 | denotes | MH |
| T2 | 309-313 | gene:6261 | denotes | RYR1 |
| T3 | 357-359 | disease:C0024591 | denotes | MH |
| R1 | T0 | T1 | associated_with | skeletal muscle ryanodine receptor,MH |
| R2 | T2 | T3 | associated_with | RYR1,MH |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 128-150 | HP_0002047 | denotes | Malignant hyperthermia |
| T2 | 138-150 | HP_0001945 | denotes | hyperthermia |
| T3 | 553-575 | HP_0002047 | denotes | malignant hyperthermia |
| T4 | 563-575 | HP_0001945 | denotes | hyperthermia |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1774074-0#18#43#geners118192172 | 18-43 | geners118192172 | denotes | cysteine for arginine 614 |
| 1774074-0#104#126#diseaseC0024591 | 104-126 | diseaseC0024591 | denotes | malignant hyperthermia |
| 18#43#geners118192172104#126#diseaseC0024591 | 1774074-0#18#43#geners118192172 | 1774074-0#104#126#diseaseC0024591 | associated_with | cysteine for arginine 614,malignant hyperthermia |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1774074-2#4#38#gene6261 | 273-307 | gene6261 | denotes | skeletal muscle ryanodine receptor |
| 1774074-2#40#44#gene6261 | 309-313 | gene6261 | denotes | RYR1 |
| 1774074-2#88#90#diseaseC0024591 | 357-359 | diseaseC0024591 | denotes | MH |
| 4#38#gene626188#90#diseaseC0024591 | 1774074-2#4#38#gene6261 | 1774074-2#88#90#diseaseC0024591 | associated_with | skeletal muscle ryanodine receptor,MH |
| 40#44#gene626188#90#diseaseC0024591 | 1774074-2#40#44#gene6261 | 1774074-2#88#90#diseaseC0024591 | associated_with | RYR1,MH |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 128-150 | HP:0002047 | denotes | Malignant hyperthermia |
| TI1 | 104-126 | HP:0002047 | denotes | malignant hyperthermia |
| AB2 | 553-575 | HP:0002047 | denotes | malignant hyperthermia |