PubMed:28918368
Annnotations
NGLY1-deficiency
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
PD-NGLY1-deficiency-B_T1 | 40-46 | chem:24139 | denotes | GlcNAc |
PD-NGLY1-deficiency-B_T2 | 282-288 | chem:24139 | denotes | GlcNAc |
PD-NGLY1-deficiency-B_T3 | 389-395 | chem:24139 | denotes | GlcNAc |
PD-NGLY1-deficiency-B_T4 | 1017-1023 | chem:24139 | denotes | GlcNAc |
PD-NGLY1-deficiency-B_T5 | 1239-1245 | chem:24139 | denotes | GlcNAc |
kaiyin_test
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T3 | 543-549 | Gene | denotes | GNPTAB |
T4 | 627-633 | Var | denotes | p.D76G |
T5 | 635-642 | Var | denotes | p.S385L |
T6 | 644-655 | Var | denotes | p.Q278Kfs*3 |
T7 | 657-669 | Var | denotes | p.H588Qfs*27 |
T8 | 671-683 | Var | denotes | p.N642Lfs*10 |
T9 | 688-696 | Var | denotes | p.Y1111* |
T1 | 819-825 | Var | denotes | p.D76G |
T2 | 886-893 | Var | denotes | p.S385L |
T10 | 1009-1013 | NegReg | denotes | loss |
T11 | 1017-1044 | Enzyme | denotes | GlcNAc-1-phosphotransferase |
T12 | 1045-1053 | MPA | denotes | activity |
R1 | T3 | T4 | ThemeOf | GNPTAB,p.D76G |
R10 | T12 | T10 | ThemeOf | activity,loss |
R2 | T3 | T5 | ThemeOf | GNPTAB,p.S385L |
R3 | T3 | T6 | ThemeOf | GNPTAB,p.Q278Kfs*3 |
R4 | T3 | T7 | ThemeOf | GNPTAB,p.H588Qfs*27 |
R5 | T3 | T8 | ThemeOf | GNPTAB,p.N642Lfs*10 |
R6 | T3 | T9 | ThemeOf | GNPTAB,p.Y1111* |
R7 | T1 | T10 | CauseOf | p.D76G,loss |
R8 | T2 | T10 | CauseOf | p.S385L,loss |
R9 | T11 | T12 | ThemeOf | GlcNAc-1-phosphotransferase,activity |
name_no
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T3 | 543-549 | Gene | denotes | GNPTAB |
T4 | 627-633 | Var | denotes | p.D76G |
T5 | 635-642 | Var | denotes | p.S385L |
T6 | 644-655 | Var | denotes | p.Q278Kfs*3 |
T7 | 657-669 | Var | denotes | p.H588Qfs*27 |
T8 | 671-683 | Var | denotes | p.N642Lfs*10 |
T9 | 688-696 | Var | denotes | p.Y1111* |
T1 | 819-825 | Var | denotes | p.D76G |
T2 | 886-893 | Var | denotes | p.S385L |
T10 | 1009-1013 | NegReg | denotes | loss |
T11 | 1017-1044 | Enzyme | denotes | GlcNAc-1-phosphotransferase |
T12 | 1045-1053 | MPA | denotes | activity |
R1 | T3 | T4 | ThemeOf | GNPTAB,p.D76G |
R10 | T12 | T10 | ThemeOf | activity,loss |
R2 | T3 | T5 | ThemeOf | GNPTAB,p.S385L |
R3 | T3 | T6 | ThemeOf | GNPTAB,p.Q278Kfs*3 |
R4 | T3 | T7 | ThemeOf | GNPTAB,p.H588Qfs*27 |
R5 | T3 | T8 | ThemeOf | GNPTAB,p.N642Lfs*10 |
R6 | T3 | T9 | ThemeOf | GNPTAB,p.Y1111* |
R7 | T1 | T10 | CauseOf | p.D76G,loss |
R8 | T2 | T10 | CauseOf | p.S385L,loss |
R9 | T11 | T12 | ThemeOf | GlcNAc-1-phosphotransferase,activity |