PubMed:26586530
Annnotations
sonoma2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 78-92 | GENE | denotes | PCSK9-mediated |
| T1 | 93-132 | DISEASE | denotes | autosomal dominant hypercholesterolemia |
| T2 | 134-179 | GENE | denotes | Proprotein convertase subtilisin kexin type 9 |
| T3 | 181-186 | GENE | denotes | PCSK9 |
| T4 | 215-238 | MPA | denotes | cholesterol homeostasis |
| T5 | 248-253 | GENE | denotes | PCSK9 |
| T6 | 254-270 | POSREG | denotes | gain-of-function |
| T7 | 272-275 | POSREG | denotes | GOF |
| T8 | 277-286 | VAR | denotes | mutations |
| T9 | 291-301 | REG | denotes | associated |
| T10 | 307-346 | DISEASE | denotes | autosomal dominant hypercholesterolemia |
| T11 | 348-351 | DISEASE | denotes | ADH |
| T12 | 357-382 | DISEASE | denotes | premature atherosclerosis |
| T13 | 384-389 | GENE | denotes | PCSK9 |
| T14 | 390-406 | NEGREG | denotes | loss-of-function |
| T15 | 408-411 | NEGREG | denotes | LOF |
| T16 | 413-422 | VAR | denotes | mutations |
| T17 | 430-447 | CPA | denotes | cardio-protective |
| T18 | 448-454 | CPA | denotes | effect |
| T19 | 477-481 | REG | denotes | lead |
| T20 | 482-484 | REG | denotes | to |
| T21 | 485-517 | DISEASE | denotes | familial hypobetalipoproteinemia |
| T22 | 519-523 | DISEASE | denotes | FHBL |
| T23 | 631-636 | GENE | denotes | PCSK9 |
| T24 | 637-645 | VAR | denotes | mutation |
| T25 | 776-790 | GENE | denotes | PCSK9-mediated |
| T26 | 791-794 | DISEASE | denotes | ADH |
| T27 | 799-803 | DISEASE | denotes | FHBL |
| T28 | 1068-1071 | DISEASE | denotes | ADH |
| T29 | 1093-1097 | NEGREG | denotes | less |
| T30 | 1098-1103 | GENE | denotes | PCSK9 |
| T31 | 1149-1157 | NEGREG | denotes | decrease |
| T32 | 1266-1270 | DISEASE | denotes | FHBL |
| T33 | 1269-1273 | DISEASE | denotes | L (H |
| T34 | 1308-1316 | NEGREG | denotes | decrease |
| T35 | 1323-1328 | GENE | denotes | K9 se |
| T36 | 1326-1335 | MPA | denotes | secretion |
| T37 | 1369-1377 | POSREG | denotes | increase |
| T38 | 1440-1448 | POSREG | denotes | enhanced |
| T39 | 1449-1452 | GENE | denotes | LDL |
| T40 | 1455-1467 | GENE | denotes | ceptor (LDLR |
| T41 | 1463-1467 | GENE | denotes | LDLR |
| T42 | 1469-1473 | GENE | denotes | and |
| T43 | 1473-1478 | GENE | denotes | PCSK9 |
| T44 | 1479-1484 | GENE | denotes | mRNA |
| T45 | 1489-1499 | MPA | denotes | expression |
| T46 | 1518-1527 | MPA | denotes | secretion |
| T47 | 1518-1523 | GENE | denotes | secre |
| T48 | 1634-1642 | POSREG | denotes | increase |
| T49 | 1646-1656 | MPA | denotes | LDL uptake |
| T50 | 1820-1825 | VAR | denotes | S127R |
| T51 | 2065-2070 | GENE | denotes | PCSK9 |
| T52 | 2071-2080 | VAR | denotes | mutations |
| T53 | 2076-2081 | GENE | denotes | ions |
| R0 | T5 | T8 | ThemeOf | PCSK9,mutations |
| R1 | T7 | T6 | CauseOf | GOF,gain-of-function |
| R2 | T6 | T9 | CauseOf | gain-of-function,associated |
| R3 | T7 | T9 | CauseOf | GOF,associated |
| R4 | T8 | T6 | CauseOf | mutations,gain-of-function |
| R5 | T8 | T7 | CauseOf | mutations,GOF |
| R6 | T8 | T9 | CauseOf | mutations,associated |
| R7 | T8 | T14 | CauseOf | mutations,loss-of-function |
| R8 | T10 | T6 | ThemeOf | autosomal dominant hypercholesterolemia,gain-of-function |
| R9 | T10 | T7 | ThemeOf | autosomal dominant hypercholesterolemia,GOF |
| R10 | T10 | T9 | ThemeOf | autosomal dominant hypercholesterolemia,associated |
| R11 | T10 | T14 | ThemeOf | autosomal dominant hypercholesterolemia,loss-of-function |
| R12 | T10 | T15 | ThemeOf | autosomal dominant hypercholesterolemia,LOF |
| R13 | T11 | T6 | ThemeOf | ADH,gain-of-function |
| R14 | T11 | T7 | ThemeOf | ADH,GOF |
| R15 | T11 | T9 | ThemeOf | ADH,associated |
| R16 | T11 | T14 | ThemeOf | ADH,loss-of-function |
| R17 | T11 | T15 | ThemeOf | ADH,LOF |
| R18 | T12 | T6 | ThemeOf | premature atherosclerosis,gain-of-function |
| R19 | T12 | T7 | ThemeOf | premature atherosclerosis,GOF |
| R20 | T12 | T9 | ThemeOf | premature atherosclerosis,associated |
| R21 | T12 | T14 | ThemeOf | premature atherosclerosis,loss-of-function |
| R22 | T12 | T15 | ThemeOf | premature atherosclerosis,LOF |
| R23 | T13 | T16 | ThemeOf | PCSK9,mutations |
| R24 | T15 | T14 | CauseOf | LOF,loss-of-function |
| R25 | T17 | T14 | ThemeOf | cardio-protective,loss-of-function |
| R26 | T16 | T6 | CauseOf | mutations,gain-of-function |
| R27 | T16 | T14 | CauseOf | mutations,loss-of-function |
| R28 | T16 | T15 | CauseOf | mutations,LOF |
| R29 | T16 | T17 | CauseOf | mutations,cardio-protective |
| R30 | T16 | T19 | CauseOf | mutations,lead |
| R31 | T16 | T20 | CauseOf | mutations,to |
| R32 | T17 | T18 | ThemeOf | cardio-protective,effect |
| R33 | T21 | T6 | ThemeOf | familial hypobetalipoproteinemia,gain-of-function |
| R34 | T21 | T7 | ThemeOf | familial hypobetalipoproteinemia,GOF |
| R35 | T21 | T14 | ThemeOf | familial hypobetalipoproteinemia,loss-of-function |
| R36 | T21 | T15 | ThemeOf | familial hypobetalipoproteinemia,LOF |
| R37 | T21 | T19 | ThemeOf | familial hypobetalipoproteinemia,lead |
| R38 | T21 | T20 | ThemeOf | familial hypobetalipoproteinemia,to |
| R39 | T22 | T6 | ThemeOf | FHBL,gain-of-function |
| R40 | T22 | T14 | ThemeOf | FHBL,loss-of-function |
| R41 | T22 | T15 | ThemeOf | FHBL,LOF |
| R42 | T22 | T19 | ThemeOf | FHBL,lead |
| R43 | T22 | T20 | ThemeOf | FHBL,to |
| R44 | T23 | T24 | ThemeOf | PCSK9,mutation |
| R45 | T28 | T29 | ThemeOf | ADH,less |
| R46 | T28 | T31 | ThemeOf | ADH,decrease |
| R47 | T32 | T29 | ThemeOf | FHBL,less |
| R48 | T32 | T31 | ThemeOf | FHBL,decrease |
| R49 | T32 | T34 | ThemeOf | FHBL,decrease |
| R50 | T34 | T37 | CauseOf | decrease,increase |
| R51 | T36 | T34 | ThemeOf | secretion,decrease |
| R52 | T39 | T38 | ThemeOf | LDL,enhanced |
| R53 | T39 | T45 | ThemeOf | LDL,expression |
| R54 | T41 | T38 | ThemeOf | LDLR,enhanced |
| R55 | T41 | T45 | ThemeOf | LDLR,expression |
| R56 | T41 | T46 | ThemeOf | LDLR,secretion |
| R57 | T43 | T38 | ThemeOf | PCSK9,enhanced |
| R58 | T43 | T45 | ThemeOf | PCSK9,expression |
| R59 | T45 | T38 | ThemeOf | expression,enhanced |
| R60 | T46 | T45 | ThemeOf | secretion,expression |
| R61 | T46 | T38 | ThemeOf | secretion,enhanced |
| R62 | T49 | T48 | ThemeOf | LDL uptake,increase |
| R63 | T50 | T48 | CauseOf | S127R,increase |
| R64 | T51 | T52 | ThemeOf | PCSK9,mutations |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 26586530-7#284#289#geners369067856 | 1276-1281 | geners369067856 | denotes | R104C |
| 26586530-7#290#295#geners775988212 | 1282-1287 | geners775988212 | denotes | V114A |
| 26586530-7#76#79#diseaseC1332347 | 1068-1071 | diseaseC1332347 | denotes | ADH |
| 26586530-7#81#90#diseaseC1332347 | 1073-1082 | diseaseC1332347 | denotes | HLC-S127R |
| 26586530-7#274#278#diseaseC1862596 | 1266-1270 | diseaseC1862596 | denotes | FHBL |
| 26586530-7#76#79#diseaseC1332347 | 1068-1071 | diseaseC1332347 | denotes | ADH |
| 26586530-7#81#90#diseaseC1332347 | 1073-1082 | diseaseC1332347 | denotes | HLC-S127R |
| 26586530-7#274#278#diseaseC1862596 | 1266-1270 | diseaseC1862596 | denotes | FHBL |
| 26586530-9#249#254#geners752942769 | 1820-1825 | geners752942769 | denotes | S127R |
| 26586530-9#249#254#geners762588484 | 1820-1825 | geners762588484 | denotes | S127R |
| 26586530-9#249#254#geners28942111 | 1820-1825 | geners28942111 | denotes | S127R |
| 26586530-9#105#114#diseaseC1332347 | 1678-1687 | diseaseC1332347 | denotes | HLC-S127R |
| 284#289#geners36906785676#79#diseaseC1332347 | 26586530-7#284#289#geners369067856 | 26586530-7#76#79#diseaseC1332347 | associated_with | R104C,ADH |
| 284#289#geners36906785681#90#diseaseC1332347 | 26586530-7#284#289#geners369067856 | 26586530-7#81#90#diseaseC1332347 | associated_with | R104C,HLC-S127R |
| 284#289#geners369067856274#278#diseaseC1862596 | 26586530-7#284#289#geners369067856 | 26586530-7#274#278#diseaseC1862596 | associated_with | R104C,FHBL |
| 284#289#geners36906785676#79#diseaseC1332347 | 26586530-7#284#289#geners369067856 | 26586530-7#76#79#diseaseC1332347 | associated_with | R104C,ADH |
| 284#289#geners36906785681#90#diseaseC1332347 | 26586530-7#284#289#geners369067856 | 26586530-7#81#90#diseaseC1332347 | associated_with | R104C,HLC-S127R |
| 284#289#geners369067856274#278#diseaseC1862596 | 26586530-7#284#289#geners369067856 | 26586530-7#274#278#diseaseC1862596 | associated_with | R104C,FHBL |
| 290#295#geners77598821276#79#diseaseC1332347 | 26586530-7#290#295#geners775988212 | 26586530-7#76#79#diseaseC1332347 | associated_with | V114A,ADH |
| 290#295#geners77598821281#90#diseaseC1332347 | 26586530-7#290#295#geners775988212 | 26586530-7#81#90#diseaseC1332347 | associated_with | V114A,HLC-S127R |
| 290#295#geners775988212274#278#diseaseC1862596 | 26586530-7#290#295#geners775988212 | 26586530-7#274#278#diseaseC1862596 | associated_with | V114A,FHBL |
| 290#295#geners77598821276#79#diseaseC1332347 | 26586530-7#290#295#geners775988212 | 26586530-7#76#79#diseaseC1332347 | associated_with | V114A,ADH |
| 290#295#geners77598821281#90#diseaseC1332347 | 26586530-7#290#295#geners775988212 | 26586530-7#81#90#diseaseC1332347 | associated_with | V114A,HLC-S127R |
| 290#295#geners775988212274#278#diseaseC1862596 | 26586530-7#290#295#geners775988212 | 26586530-7#274#278#diseaseC1862596 | associated_with | V114A,FHBL |
| 249#254#geners752942769105#114#diseaseC1332347 | 26586530-9#249#254#geners752942769 | 26586530-9#105#114#diseaseC1332347 | associated_with | S127R,HLC-S127R |
| 249#254#geners762588484105#114#diseaseC1332347 | 26586530-9#249#254#geners762588484 | 26586530-9#105#114#diseaseC1332347 | associated_with | S127R,HLC-S127R |
| 249#254#geners28942111105#114#diseaseC1332347 | 26586530-9#249#254#geners28942111 | 26586530-9#105#114#diseaseC1332347 | associated_with | S127R,HLC-S127R |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 26586530-0#78#83#gene255738 | 78-83 | gene255738 | denotes | PCSK9 |
| 26586530-0#93#132#diseaseC0745103 | 93-132 | diseaseC0745103 | denotes | autosomal dominant hypercholesterolemia |
| 26586530-2#8#13#gene255738 | 248-253 | gene255738 | denotes | PCSK9 |
| 26586530-2#127#142#diseaseC0003850 | 367-382 | diseaseC0003850 | denotes | atherosclerosis |
| 26586530-2#127#142#diseaseC0004153 | 367-382 | diseaseC0004153 | denotes | atherosclerosis |
| 26586530-7#106#111#gene255738 | 1098-1103 | gene255738 | denotes | PCSK9 |
| 26586530-7#328#333#gene255738 | 1320-1325 | gene255738 | denotes | PCSK9 |
| 26586530-7#76#79#diseaseC1332347 | 1068-1071 | diseaseC1332347 | denotes | ADH |
| 26586530-7#81#90#diseaseC1332347 | 1073-1082 | diseaseC1332347 | denotes | HLC-S127R |
| 26586530-7#274#278#diseaseC1862596 | 1266-1270 | diseaseC1862596 | denotes | FHBL |
| 26586530-7#76#79#diseaseC1332347 | 1068-1071 | diseaseC1332347 | denotes | ADH |
| 26586530-7#81#90#diseaseC1332347 | 1073-1082 | diseaseC1332347 | denotes | HLC-S127R |
| 26586530-7#274#278#diseaseC1862596 | 1266-1270 | diseaseC1862596 | denotes | FHBL |
| 78#83#gene25573893#132#diseaseC0745103 | 26586530-0#78#83#gene255738 | 26586530-0#93#132#diseaseC0745103 | associated_with | PCSK9,autosomal dominant hypercholesterolemia |
| 8#13#gene255738127#142#diseaseC0003850 | 26586530-2#8#13#gene255738 | 26586530-2#127#142#diseaseC0003850 | associated_with | PCSK9,atherosclerosis |
| 8#13#gene255738127#142#diseaseC0004153 | 26586530-2#8#13#gene255738 | 26586530-2#127#142#diseaseC0004153 | associated_with | PCSK9,atherosclerosis |
| 106#111#gene25573876#79#diseaseC1332347 | 26586530-7#106#111#gene255738 | 26586530-7#76#79#diseaseC1332347 | associated_with | PCSK9,ADH |
| 106#111#gene25573881#90#diseaseC1332347 | 26586530-7#106#111#gene255738 | 26586530-7#81#90#diseaseC1332347 | associated_with | PCSK9,HLC-S127R |
| 106#111#gene255738274#278#diseaseC1862596 | 26586530-7#106#111#gene255738 | 26586530-7#274#278#diseaseC1862596 | associated_with | PCSK9,FHBL |
| 106#111#gene25573876#79#diseaseC1332347 | 26586530-7#106#111#gene255738 | 26586530-7#76#79#diseaseC1332347 | associated_with | PCSK9,ADH |
| 106#111#gene25573881#90#diseaseC1332347 | 26586530-7#106#111#gene255738 | 26586530-7#81#90#diseaseC1332347 | associated_with | PCSK9,HLC-S127R |
| 106#111#gene255738274#278#diseaseC1862596 | 26586530-7#106#111#gene255738 | 26586530-7#274#278#diseaseC1862596 | associated_with | PCSK9,FHBL |
| 328#333#gene25573876#79#diseaseC1332347 | 26586530-7#328#333#gene255738 | 26586530-7#76#79#diseaseC1332347 | associated_with | PCSK9,ADH |
| 328#333#gene25573881#90#diseaseC1332347 | 26586530-7#328#333#gene255738 | 26586530-7#81#90#diseaseC1332347 | associated_with | PCSK9,HLC-S127R |
| 328#333#gene255738274#278#diseaseC1862596 | 26586530-7#328#333#gene255738 | 26586530-7#274#278#diseaseC1862596 | associated_with | PCSK9,FHBL |
| 328#333#gene25573876#79#diseaseC1332347 | 26586530-7#328#333#gene255738 | 26586530-7#76#79#diseaseC1332347 | associated_with | PCSK9,ADH |
| 328#333#gene25573881#90#diseaseC1332347 | 26586530-7#328#333#gene255738 | 26586530-7#81#90#diseaseC1332347 | associated_with | PCSK9,HLC-S127R |
| 328#333#gene255738274#278#diseaseC1862596 | 26586530-7#328#333#gene255738 | 26586530-7#274#278#diseaseC1862596 | associated_with | PCSK9,FHBL |
kaiyin_test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 248-253 | Gene | denotes | PCSK9 |
| T2 | 254-270 | PosReg | denotes | gain-of-function |
| T3 | 277-286 | Var | denotes | mutations |
| T4 | 307-346 | Disease | denotes | autosomal dominant hypercholesterolemia |
| T5 | 357-382 | Disease | denotes | premature atherosclerosis |
| T6 | 384-389 | Gene | denotes | PCSK9 |
| T7 | 390-406 | NegReg | denotes | loss-of-function |
| T8 | 413-422 | Var | denotes | mutations |
| T9 | 423-427 | PosReg | denotes | have |
| T10 | 430-454 | CPA | denotes | cardio-protective effect |
| T11 | 485-517 | Disease | denotes | familial hypobetalipoproteinemia |
| R1 | T1 | T3 | ThemeOf | PCSK9,mutations |
| R2 | T3 | T2 | CauseOf | mutations,gain-of-function |
| R3 | T4 | T2 | ThemeOf | autosomal dominant hypercholesterolemia,gain-of-function |
| R4 | T5 | T2 | ThemeOf | premature atherosclerosis,gain-of-function |
| R5 | T6 | T8 | ThemeOf | PCSK9,mutations |
| R6 | T8 | T7 | CauseOf | mutations,loss-of-function |
| R7 | T11 | T7 | ThemeOf | familial hypobetalipoproteinemia,loss-of-function |
| R8 | T8 | T9 | CauseOf | mutations,have |
| R9 | T10 | T9 | ThemeOf | cardio-protective effect,have |
name_no
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 248-253 | Gene | denotes | PCSK9 |
| T2 | 254-270 | PosReg | denotes | gain-of-function |
| T3 | 277-286 | Var | denotes | mutations |
| T4 | 307-346 | Disease | denotes | autosomal dominant hypercholesterolemia |
| T5 | 357-382 | Disease | denotes | premature atherosclerosis |
| T6 | 384-389 | Gene | denotes | PCSK9 |
| T7 | 390-406 | NegReg | denotes | loss-of-function |
| T8 | 413-422 | Var | denotes | mutations |
| T9 | 423-427 | PosReg | denotes | have |
| T10 | 430-454 | CPA | denotes | cardio-protective effect |
| T11 | 485-517 | Disease | denotes | familial hypobetalipoproteinemia |
| R1 | T1 | T3 | ThemeOf | PCSK9,mutations |
| R2 | T3 | T2 | CauseOf | mutations,gain-of-function |
| R3 | T4 | T2 | ThemeOf | autosomal dominant hypercholesterolemia,gain-of-function |
| R4 | T5 | T2 | ThemeOf | premature atherosclerosis,gain-of-function |
| R5 | T6 | T8 | ThemeOf | PCSK9,mutations |
| R6 | T8 | T7 | CauseOf | mutations,loss-of-function |
| R7 | T11 | T7 | ThemeOf | familial hypobetalipoproteinemia,loss-of-function |
| R8 | T8 | T9 | CauseOf | mutations,have |
| R9 | T10 | T9 | ThemeOf | cardio-protective effect,have |