PubMed:10913334
Annnotations
PubTator4TogoVar
| Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
|---|---|---|---|---|---|
| 10913334_0 | 21-27 | ProteinMutation | denotes | R1268Q | rs2238472 |
| 10913334_1 | 1122-1128 | ProteinMutation | denotes | R1141X | rs72653706 |
| 10913334_2 | 1210-1216 | ProteinMutation | denotes | R1268Q | rs2238472 |
| 10913334_3 | 1345-1351 | ProteinMutation | denotes | R1268Q | rs2238472 |
| 10913334_4 | 1376-1381 | ProteinMutation | denotes | Q1268 | rs2238472 |
| 10913334_5 | 1590-1595 | ProteinMutation | denotes | Q1268 | rs2238472 |
| 10913334_6 | 1633-1639 | ProteinMutation | denotes | R1268Q | rs2238472 |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 161-190 | HP_0003549 | denotes | disorder of connective tissue |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10913334-5#75#81#geners72653706 | 1122-1128 | geners72653706 | denotes | R1141X |
| 10913334-5#13#16#diseaseC0033847 | 1060-1063 | diseaseC0033847 | denotes | PXE |
| 10913334-9#29#35#geners2238472 | 1633-1639 | geners2238472 | denotes | R1268Q |
| 10913334-9#76#79#diseaseC0033847 | 1680-1683 | diseaseC0033847 | denotes | PXE |
| 75#81#geners7265370613#16#diseaseC0033847 | 10913334-5#75#81#geners72653706 | 10913334-5#13#16#diseaseC0033847 | associated_with | R1141X,PXE |
| 29#35#geners223847276#79#diseaseC0033847 | 10913334-9#29#35#geners2238472 | 10913334-9#76#79#diseaseC0033847 | associated_with | R1268Q,PXE |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10913334-9#51#55#gene368 | 1655-1659 | gene368 | denotes | MRP6 |
| 10913334-9#76#79#diseaseC0033847 | 1680-1683 | diseaseC0033847 | denotes | PXE |
| 51#55#gene36876#79#diseaseC0033847 | 10913334-9#51#55#gene368 | 10913334-9#76#79#diseaseC0033847 | associated_with | MRP6,PXE |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 820-824 | gene:368 | denotes | MRP6 |
| T1 | 1042-1045 | disease:C0033847 | denotes | PXE |
| T2 | 820-824 | gene:6283 | denotes | MRP6 |
| T3 | 1042-1045 | disease:C0033847 | denotes | PXE |
| T4 | 884-888 | gene:368 | denotes | MRP6 |
| T5 | 1042-1045 | disease:C0033847 | denotes | PXE |
| T6 | 884-888 | gene:6283 | denotes | MRP6 |
| T7 | 1042-1045 | disease:C0033847 | denotes | PXE |
| R1 | T0 | T1 | associated_with | MRP6,PXE |
| R2 | T2 | T3 | associated_with | MRP6,PXE |
| R3 | T4 | T5 | associated_with | MRP6,PXE |
| R4 | T6 | T7 | associated_with | MRP6,PXE |