PubMed:23285148
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 1346-1352 | gene:1482 | denotes | NKX2-5 |
| T1 | 1366-1384 | disease:C1563716 | denotes | thyroid dysgenesis |
| R1 | T0 | T1 | associated_with | NKX2-5,thyroid dysgenesis |
Allie
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| SS1_23285148_2_0 | 233-257 | expanded | denotes | congenital heart disease |
| SS2_23285148_2_0 | 259-262 | abbr | denotes | CHD |
| AE1_23285148_2_0 | SS1_23285148_2_0 | SS2_23285148_2_0 | abbreviatedTo | congenital heart disease,CHD |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 233-257 | HP_0002564 | denotes | congenital heart disease |
| T2 | 317-335 | HP_0008188 | denotes | thyroid dysgenesis |
| T3 | 826-847 | HP_0000820 | denotes | thyroid abnormalities |
| T4 | 1366-1384 | HP_0008188 | denotes | thyroid dysgenesis |
| T5 | 1658-1676 | HP_0008188 | denotes | thyroid dysgenesis |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 23285148-2#188#195#geners137852684 | 353-360 | geners137852684 | denotes | p.A119S |
| 23285148-2#68#92#diseaseC0152021 | 233-257 | diseaseC0152021 | denotes | congenital heart disease |
| 23285148-9#43#50#geners137852684 | 1429-1436 | geners137852684 | denotes | p.A119S |
| 23285148-9#66#69#diseaseC0010068 | 1452-1455 | diseaseC0010068 | denotes | CHD |
| 188#195#geners13785268468#92#diseaseC0152021 | 23285148-2#188#195#geners137852684 | 23285148-2#68#92#diseaseC0152021 | associated_with | p.A119S,congenital heart disease |
| 43#50#geners13785268466#69#diseaseC0010068 | 23285148-9#43#50#geners137852684 | 23285148-9#66#69#diseaseC0010068 | associated_with | p.A119S,CHD |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 23285148-0#22#28#gene1482 | 1602-1608 | gene1482 | denotes | NKX2-5 |
| 23285148-0#42#60#diseaseC1563716 | 1658-1676 | diseaseC1563716 | denotes | thyroid dysgenesis |
| 23285148-2#68#92#diseaseC0152021 | 233-257 | diseaseC0152021 | denotes | congenital heart disease |
| 23285148-9#139#145#gene1482 | 1525-1531 | gene1482 | denotes | NKX2-5 |
| 23285148-9#66#69#diseaseC0010068 | 1452-1455 | diseaseC0010068 | denotes | CHD |
| 22#28#gene148242#60#diseaseC1563716 | 23285148-0#22#28#gene1482 | 23285148-0#42#60#diseaseC1563716 | associated_with | NKX2-5,thyroid dysgenesis |
| 139#145#gene148266#69#diseaseC0010068 | 23285148-9#139#145#gene1482 | 23285148-9#66#69#diseaseC0010068 | associated_with | NKX2-5,CHD |