PubMed:21496008
Annnotations
TEST-DiseaseOrPhenotypicFeature
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 193-206 | DiseaseOrPhenotypicFeature | denotes | malformations | DISEASE |
| T2 | 224-247 | DiseaseOrPhenotypicFeature | denotes | intellectual disability | D008607 |
| T3 | 249-251 | DiseaseOrPhenotypicFeature | denotes | ID | D008607 |
| T4 | 474-476 | DiseaseOrPhenotypicFeature | denotes | ID | D008607 |
TEST-ChemicalEntity
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 324-335 | ChemicalEntity | denotes | polyalanine | ChemicalEntity |
| T2 | 337-339 | ChemicalEntity | denotes | pA | ChemicalEntity |
TEST-OrganismTaxon
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 138-143 | OrganismTaxon | denotes | human |
| T2 | 1250-1258 | OrganismTaxon | denotes | patients |
Test-GeneOrGeneProduct
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 75-83 | GeneOrGeneProduct | denotes | homeobox |
| T2 | 85-88 | GeneOrGeneProduct | denotes | ARX |
| T3 | 96-99 | GeneOrGeneProduct | denotes | ARX |
| T4 | 254-257 | GeneOrGeneProduct | denotes | ARX |
| T5 | 263-283 | GeneOrGeneProduct | denotes | transcription factor |
| T6 | 509-512 | GeneOrGeneProduct | denotes | ARX |
| T7 | 660-663 | GeneOrGeneProduct | denotes | ARX |
| T8 | 687-695 | GeneOrGeneProduct | denotes | stranded |
| T9 | 847-850 | GeneOrGeneProduct | denotes | ARX |
| T10 | 1134-1145 | GeneOrGeneProduct | denotes | homeodomain |
| T11 | 1197-1200 | GeneOrGeneProduct | denotes | ARX |
| T12 | 1375-1387 | GeneOrGeneProduct | denotes | ARX proteins |
| T14 | 1595-1606 | GeneOrGeneProduct | denotes | homeodomain |
Test-SequenceVariant
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 524-532 | SequenceVariant | denotes | c.304ins |
| T2 | 563-575 | SequenceVariant | denotes | c.429_452dup |
| T3 | 1147-1156 | SequenceVariant | denotes | c.1074G>T |
Test-merged-2
| Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
|---|---|---|---|---|---|---|
| T18043 | 524-532 | SequenceVariant | denotes | c.304ins | ||
| T19110 | 563-575 | SequenceVariant | denotes | c.429_452dup | ||
| T54574 | 1147-1156 | SequenceVariant | denotes | c.1074G>T | ||
| T10749 | 324-335 | ChemicalEntity | denotes | polyalanine | ChemicalEntity | |
| T29393 | 337-339 | ChemicalEntity | denotes | pA | ChemicalEntity | |
| T25151 | 75-83 | GeneOrGeneProduct | denotes | homeobox | ||
| T71873 | 85-88 | GeneOrGeneProduct | denotes | ARX | ||
| T98251 | 96-99 | GeneOrGeneProduct | denotes | ARX | ||
| T24667 | 254-257 | GeneOrGeneProduct | denotes | ARX | ||
| T5 | 263-283 | GeneOrGeneProduct | denotes | transcription factor | ||
| T6 | 509-512 | GeneOrGeneProduct | denotes | ARX | ||
| T7 | 660-663 | GeneOrGeneProduct | denotes | ARX | ||
| T8 | 687-695 | GeneOrGeneProduct | denotes | stranded | ||
| T9 | 847-850 | GeneOrGeneProduct | denotes | ARX | ||
| T10 | 1134-1145 | GeneOrGeneProduct | denotes | homeodomain | ||
| T11 | 1197-1200 | GeneOrGeneProduct | denotes | ARX | ||
| T12 | 1375-1387 | GeneOrGeneProduct | denotes | ARX proteins | ||
| T14 | 1595-1606 | GeneOrGeneProduct | denotes | homeodomain | ||
| T24257 | 138-143 | OrganismTaxon | denotes | human | ||
| T52764 | 1250-1258 | OrganismTaxon | denotes | patients | ||
| T1 | 193-206 | DiseaseOrPhenotypicFeature | denotes | malformations | DISEASE | |
| T2 | 224-247 | DiseaseOrPhenotypicFeature | denotes | intellectual disability | D008607 | |
| T3 | 249-251 | DiseaseOrPhenotypicFeature | denotes | ID | D008607 | |
| T4 | 474-476 | DiseaseOrPhenotypicFeature | denotes | ID | D008607 |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 509-512 | gene:170302 | denotes | ARX |
| T1 | 474-476 | disease:C3714756 | denotes | ID |
| R1 | T0 | T1 | associated_with | ARX,ID |
Allie
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| SS1_21496008_0_0 | 56-83 | expanded | denotes | Aristaless-related homeobox |
| SS2_21496008_0_0 | 85-88 | abbr | denotes | ARX |
| SS1_21496008_1_0 | 224-247 | expanded | denotes | intellectual disability |
| SS2_21496008_1_0 | 249-251 | abbr | denotes | ID |
| SS1_21496008_2_0 | 324-335 | expanded | denotes | polyalanine |
| SS2_21496008_2_0 | 337-339 | abbr | denotes | pA |
| SS1_21496008_4_0 | 680-721 | expanded | denotes | single stranded polymorphism conformation |
| SS2_21496008_4_0 | 723-727 | abbr | denotes | SSCP |
| SS1_21496008_4_1 | 736-782 | expanded | denotes | denaturing high pressure liquid chromatography |
| SS2_21496008_4_1 | 784-789 | abbr | denotes | dHPLC |
| AE1_21496008_0_0 | SS1_21496008_0_0 | SS2_21496008_0_0 | abbreviatedTo | Aristaless-related homeobox,ARX |
| AE1_21496008_1_0 | SS1_21496008_1_0 | SS2_21496008_1_0 | abbreviatedTo | intellectual disability,ID |
| AE1_21496008_2_0 | SS1_21496008_2_0 | SS2_21496008_2_0 | abbreviatedTo | polyalanine,pA |
| AE1_21496008_4_0 | SS1_21496008_4_0 | SS2_21496008_4_0 | abbreviatedTo | single stranded polymorphism conformation,SSCP |
| AE1_21496008_4_1 | SS1_21496008_4_1 | SS2_21496008_4_1 | abbreviatedTo | denaturing high pressure liquid chromatography,dHPLC |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 175-206 | HP_0012443 | denotes | brain and genital malformations |
| T2 | 185-206 | HP_0000078 | denotes | genital malformations |
| T3 | 224-247 | HP_0001249 | denotes | intellectual disability |
| T4 | 881-892 | HP_0009609 | denotes | duplication |
| T5 | 987-999 | HP_0009609 | denotes | duplications |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 21496008-1#0#3#gene170302 | 96-99 | gene170302 | denotes | ARX |
| 21496008-1#89#110#diseaseC0158687 | 185-206 | diseaseC0158687 | denotes | genital malformations |
| 21496008-3#99#102#gene170302 | 509-512 | gene170302 | denotes | ARX |
| 21496008-3#64#66#diseaseC3714756 | 474-476 | diseaseC3714756 | denotes | ID |
| 0#3#gene17030289#110#diseaseC0158687 | 21496008-1#0#3#gene170302 | 21496008-1#89#110#diseaseC0158687 | associated_with | ARX,genital malformations |
| 99#102#gene17030264#66#diseaseC3714756 | 21496008-3#99#102#gene170302 | 21496008-3#64#66#diseaseC3714756 | associated_with | ARX,ID |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 224-247 | HP:0001249 | denotes | intellectual disability |
tmVarCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 524-537 | DNAMutation:c|INS|304|GCG | denotes | c.304ins(GCG) |
| T2 | 563-575 | DNAMutation:c|DUP|429_452|| | denotes | c.429_452dup |
| T3 | 577-584 | DNAMutation:|DUP||24| | denotes | dup24bp |
| T4 | 971-978 | DNAMutation:|DUP||24| | denotes | dup24bp |
| T5 | 1016-1023 | DNAMutation:|DUP||24| | denotes | dup24bp |
| T6 | 1045-1052 | DNAMutation:|DUP||27| | denotes | dup27bp |
| T7 | 1054-1061 | DNAMutation:|DUP||33| | denotes | dup33bp |
| T8 | 1147-1156 | DNAMutation:c|SUB|G|1074|T | denotes | c.1074G>T |