PubMed:18212565
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 161-195 | gene:6261 | denotes | skeletal muscle ryanodine receptor |
| T1 | 290-312 | disease:C0024591 | denotes | malignant hyperthermia |
| T2 | 736-770 | gene:6261 | denotes | skeletal muscle ryanodine receptor |
| T3 | 779-781 | disease:C0024591 | denotes | MH |
| R1 | T0 | T1 | associated_with | skeletal muscle ryanodine receptor,malignant hyperthermia |
| R2 | T2 | T3 | associated_with | skeletal muscle ryanodine receptor,MH |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 18212565-8#75#98#geners193922876 | 1178-1201 | geners193922876 | denotes | histidine 4833 tyrosine |
| 18212565-8#180#182#diseaseC0024591 | 1283-1285 | diseaseC0024591 | denotes | MH |
| 75#98#geners193922876180#182#diseaseC0024591 | 18212565-8#75#98#geners193922876 | 18212565-8#180#182#diseaseC0024591 | associated_with | histidine 4833 tyrosine,MH |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 18212565-5#45#79#gene6261 | 736-770 | gene6261 | denotes | skeletal muscle ryanodine receptor |
| 18212565-5#88#90#diseaseC0024591 | 779-781 | diseaseC0024591 | denotes | MH |
| 45#79#gene626188#90#diseaseC0024591 | 18212565-5#45#79#gene6261 | 18212565-5#88#90#diseaseC0024591 | associated_with | skeletal muscle ryanodine receptor,MH |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 108-130 | HP:0002047 | denotes | malignant hyperthermia |
| AB1 | 290-312 | HP:0002047 | denotes | malignant hyperthermia |