PubMed:23857226
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 28-33 | gene:6573 | denotes | RFC-1 |
| T1 | 95-108 | disease:C0013080 | denotes | Down syndrome |
| T2 | 237-242 | gene:6573 | denotes | RFC-1 |
| T3 | 327-329 | disease:C0013080 | denotes | DS |
| T4 | 237-242 | gene:6573 | denotes | RFC-1 |
| T5 | 312-325 | disease:C0013080 | denotes | Down Syndrome |
| T6 | 210-217 | gene:6573 | denotes | SLC19A1 |
| T7 | 327-329 | disease:C0013080 | denotes | DS |
| T8 | 210-217 | gene:6573 | denotes | SLC19A1 |
| T9 | 312-325 | disease:C0013080 | denotes | Down Syndrome |
| T10 | 1043-1050 | gene:138883 | denotes | OR 1.26 |
| T11 | 797-799 | disease:C0013080 | denotes | DS |
| T12 | 1294-1299 | gene:6573 | denotes | RFC-1 |
| T13 | 1385-1387 | disease:C0013080 | denotes | DS |
| R1 | T0 | T1 | associated_with | RFC-1,Down syndrome |
| R2 | T2 | T3 | associated_with | RFC-1,DS |
| R3 | T4 | T5 | associated_with | RFC-1,Down Syndrome |
| R4 | T6 | T7 | associated_with | SLC19A1,DS |
| R5 | T8 | T9 | associated_with | SLC19A1,Down Syndrome |
| R6 | T10 | T11 | associated_with | OR 1.26,DS |
| R7 | T12 | T13 | associated_with | RFC-1,DS |
Allie
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| SS1_23857226_1_0 | 312-325 | expanded | denotes | Down Syndrome |
| SS2_23857226_1_0 | 327-329 | abbr | denotes | DS |
| SS1_23857226_4_0 | 639-650 | expanded | denotes | Odds ratios |
| SS2_23857226_4_0 | 652-654 | abbr | denotes | OR |
| SS1_23857226_4_1 | 664-684 | expanded | denotes | confidence intervals |
| SS2_23857226_4_1 | 686-688 | abbr | denotes | CI |
| SS1_23857226_5_0 | 997-1023 | expanded | denotes | Hardy-Weinberg equilibrium |
| SS2_23857226_5_0 | 1025-1028 | abbr | denotes | HWE |
| AE1_23857226_1_0 | SS1_23857226_1_0 | SS2_23857226_1_0 | abbreviatedTo | Down Syndrome,DS |
| AE1_23857226_4_0 | SS1_23857226_4_0 | SS2_23857226_4_0 | abbreviatedTo | Odds ratios,OR |
| AE1_23857226_4_1 | SS1_23857226_4_1 | SS2_23857226_4_1 | abbreviatedTo | confidence intervals,CI |
| AE1_23857226_5_0 | SS1_23857226_5_0 | SS2_23857226_5_0 | abbreviatedTo | Hardy-Weinberg equilibrium,HWE |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 23857226-0#28#33#gene5981 | 28-33 | gene5981 | denotes | RFC-1 |
| 23857226-0#28#33#gene6573 | 28-33 | gene6573 | denotes | RFC-1 |
| 23857226-0#95#108#diseaseC0013080 | 95-108 | diseaseC0013080 | denotes | Down syndrome |
| 28#33#gene598195#108#diseaseC0013080 | 23857226-0#28#33#gene5981 | 23857226-0#95#108#diseaseC0013080 | associated_with | RFC-1,Down syndrome |
| 28#33#gene657395#108#diseaseC0013080 | 23857226-0#28#33#gene6573 | 23857226-0#95#108#diseaseC0013080 | associated_with | RFC-1,Down syndrome |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 23857226-0#35#40#geners1051266 | 35-40 | geners1051266 | denotes | 80A>G |
| 23857226-0#95#108#diseaseC0013080 | 95-108 | diseaseC0013080 | denotes | Down syndrome |
| 35#40#geners105126695#108#diseaseC0013080 | 23857226-0#35#40#geners1051266 | 23857226-0#95#108#diseaseC0013080 | associated_with | 80A>G,Down syndrome |