PubMed:30050108
Annnotations
PubTator4TogoVar
Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
---|---|---|---|---|---|
30050108_0 | 713-720 | ProteinMutation | denotes | p.E280K | rs62508698 |
30050108_1 | 722-729 | ProteinMutation | denotes | p.R252Q | rs62644503 |
30050108_2 | 731-737 | ProteinMutation | denotes | p.E56D | rs199475567 |
30050108_3 | 792-799 | ProteinMutation | denotes | p.T278I | rs62507262 |
30050108_4 | 809-816 | ProteinMutation | denotes | p.R408W | rs5030858 |
30050108_5 | 1516-1523 | ProteinMutation | denotes | p.R243Q | rs62508588 |
30050108_6 | 1500-1507 | ProteinMutation | denotes | p.R243Q | rs62508588 |
30050108_7 | 1230-1237 | ProteinMutation | denotes | p.R413P | rs79931499 |
30050108_8 | 963-970 | ProteinMutation | denotes | p.R158W | rs75166491 |
30050108_9 | 999-1006 | ProteinMutation | denotes | p.R158Q | rs75166491 |
30050108_10 | 1008-1015 | ProteinMutation | denotes | p.V388M | rs62516101 |
30050108_11 | 1017-1023 | ProteinMutation | denotes | p.I65T | rs75193786 |
30050108_12 | 1577-1584 | ProteinMutation | denotes | p.R400K | rs199475658 |
30050108_13 | 1541-1548 | ProteinMutation | denotes | p.R408Q | rs5030858 |
30050108_14 | 854-861 | ProteinMutation | denotes | p.R413P | rs79931499 |
30050108_15 | 1483-1490 | ProteinMutation | denotes | p.R243Q | rs62508588 |
30050108_16 | 1247-1253 | ProteinMutation | denotes | p.A47E | rs118203925 |
30050108_17 | 1266-1273 | ProteinMutation | denotes | p.G239D | rs62507283 |
30050108_18 | 1524-1531 | ProteinMutation | denotes | p.H107R | rs542645236 |
30050108_19 | 1491-1498 | ProteinMutation | denotes | p.Q419R | rs752255985 |
30050108_20 | 1381-1388 | ProteinMutation | denotes | p.F392I | rs180819807 |
30050108_21 | 1466-1473 | ProteinMutation | denotes | p.R243Q | rs62508588 |
30050108_22 | 1457-1464 | ProteinMutation | denotes | p.V230I | rs62516152 |
30050108_23 | 1449-1456 | ProteinMutation | denotes | p.R243Q | rs62508588 |
30050108_24 | 1474-1481 | ProteinMutation | denotes | p.A403V | rs5030857 |
30050108_25 | 1239-1246 | ProteinMutation | denotes | p.R243Q | rs62508588 |
30050108_26 | 1369-1376 | ProteinMutation | denotes | p.Q419R | rs752255985 |
30050108_27 | 834-841 | ProteinMutation | denotes | p.R243Q | rs62508588 |
30050108_28 | 1570-1576 | ProteinMutation | denotes | p.R53H | rs118092776 |
30050108_29 | 817-824 | ProteinMutation | denotes | p.R243Q | rs62508588 |
30050108_30 | 1360-1367 | ProteinMutation | denotes | p.H107R | rs542645236 |
30050108_31 | 1213-1220 | ProteinMutation | denotes | p.R408Q | rs5030858 |
30050108_32 | 1508-1514 | ProteinMutation | denotes | p.R53H | rs118092776 |
30050108_33 | 1037-1044 | ProteinMutation | denotes | p.R400K | rs199475658 |
mondo_disease
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 64-79 | Disease | denotes | phenylketonuria | http://purl.obolibrary.org/obo/MONDO_0009861 |
T2 | 157-160 | Disease | denotes | PAH | http://purl.obolibrary.org/obo/MONDO_0015924 |
T3 | 201-216 | Disease | denotes | phenylketonuria | http://purl.obolibrary.org/obo/MONDO_0009861 |
T4 | 218-221 | Disease | denotes | PKU | http://purl.obolibrary.org/obo/MONDO_0009861 |
T5 | 315-318 | Disease | denotes | PAH | http://purl.obolibrary.org/obo/MONDO_0015924 |
T6 | 335-350 | Disease | denotes | phenylketonuria | http://purl.obolibrary.org/obo/MONDO_0009861 |
T7 | 352-355 | Disease | denotes | PKU | http://purl.obolibrary.org/obo/MONDO_0009861 |
T8 | 413-416 | Disease | denotes | PAH | http://purl.obolibrary.org/obo/MONDO_0015924 |
T9 | 670-681 | Disease | denotes | classic PKU | http://purl.obolibrary.org/obo/MONDO_0019259 |
T10 | 678-681 | Disease | denotes | PKU | http://purl.obolibrary.org/obo/MONDO_0009861 |
T11 | 902-913 | Disease | denotes | classic PKU | http://purl.obolibrary.org/obo/MONDO_0019259 |
T12 | 910-913 | Disease | denotes | PKU | http://purl.obolibrary.org/obo/MONDO_0009861 |
T13 | 1078-1089 | Disease | denotes | classic PKU | http://purl.obolibrary.org/obo/MONDO_0019259 |
T14 | 1086-1089 | Disease | denotes | PKU | http://purl.obolibrary.org/obo/MONDO_0009861 |
T15 | 1309-1317 | Disease | denotes | mild PKU | http://purl.obolibrary.org/obo/MONDO_0019258 |
T16 | 1314-1317 | Disease | denotes | PKU | http://purl.obolibrary.org/obo/MONDO_0009861 |
T17 | 1705-1708 | Disease | denotes | PAH | http://purl.obolibrary.org/obo/MONDO_0015924 |
T18 | 1770-1773 | Disease | denotes | PKU | http://purl.obolibrary.org/obo/MONDO_0009861 |
NCBITAXON
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T1 | 92-97 | OrganismTaxon | denotes | China | 3034371 |