PubMed:12220451
Annnotations
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 192-214 | HP_0002047 | denotes | Malignant hyperthermia |
| T2 | 202-214 | HP_0001945 | denotes | hyperthermia |
| T3 | 226-244 | HP_0000006 | denotes | autosomal-dominant |
| T4 | 245-265 | HP_0000924 | denotes | disorder of skeletal |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 141-161 | gene:6261 | denotes | ryanodine receptor 1 |
| T1 | 81-103 | disease:C0024591 | denotes | malignant hyperthermia |
| T2 | 522-526 | gene:6261 | denotes | RyR1 |
| T3 | 548-550 | disease:C0024591 | denotes | MH |
| T4 | 500-520 | gene:6261 | denotes | ryanodine receptor 1 |
| T5 | 548-550 | disease:C0024591 | denotes | MH |
| T6 | 603-607 | gene:6261 | denotes | RyR1 |
| T7 | 548-550 | disease:C0024591 | denotes | MH |
| T8 | 1309-1313 | gene:6261 | denotes | RyR1 |
| T9 | 1352-1354 | disease:C0024591 | denotes | MH |
| R1 | T0 | T1 | associated_with | ryanodine receptor 1,malignant hyperthermia |
| R2 | T2 | T3 | associated_with | RyR1,MH |
| R3 | T4 | T5 | associated_with | ryanodine receptor 1,MH |
| R4 | T6 | T7 | associated_with | RyR1,MH |
| R5 | T8 | T9 | associated_with | RyR1,MH |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 12220451-0#162#172#geners118192177 | 162-172 | geners118192177 | denotes | Thr2206Met |
| 12220451-0#174#180#geners118192177 | 174-180 | geners118192177 | denotes | C6617T |
| 12220451-0#81#103#diseaseC0024591 | 81-103 | diseaseC0024591 | denotes | malignant hyperthermia |
| 162#172#geners11819217781#103#diseaseC0024591 | 12220451-0#162#172#geners118192177 | 12220451-0#81#103#diseaseC0024591 | associated_with | Thr2206Met,malignant hyperthermia |
| 174#180#geners11819217781#103#diseaseC0024591 | 12220451-0#174#180#geners118192177 | 12220451-0#81#103#diseaseC0024591 | associated_with | C6617T,malignant hyperthermia |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 12220451-0#141#161#gene6261 | 141-161 | gene6261 | denotes | ryanodine receptor 1 |
| 12220451-0#81#103#diseaseC0024591 | 81-103 | diseaseC0024591 | denotes | malignant hyperthermia |
| 141#161#gene626181#103#diseaseC0024591 | 12220451-0#141#161#gene6261 | 12220451-0#81#103#diseaseC0024591 | associated_with | ryanodine receptor 1,malignant hyperthermia |