PubMed:23528852 / 0-195
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-81 | Sentence | denotes | A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. |
| T1 | 0-81 | Sentence | denotes | A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 10-16 | gene:7846 | denotes | TUBA1A |
| T1 | 42-55 | disease:C0266463 | denotes | lissencephaly |
| T2 | 10-16 | gene:7846 | denotes | TUBA1A |
| T3 | 60-80 | disease:C0019569 | denotes | Hirschsprung disease |
| T4 | 10-16 | gene:7846 | denotes | TUBA1A |
| T5 | 60-80 | disease:C2931876 | denotes | Hirschsprung disease |
| T6 | 99-115 | gene:7846 | denotes | tubulin alpha-1A |
| T8 | 117-123 | gene:7846 | denotes | TUBA1A |
| T10 | 117-123 | gene:7846 | denotes | TUBA1A |
| R1 | T0 | T1 | associated_with | TUBA1A,lissencephaly |
| R2 | T2 | T3 | associated_with | TUBA1A,Hirschsprung disease |
| R3 | T4 | T5 | associated_with | TUBA1A,Hirschsprung disease |
Allie
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| SS1_23528852_1_0 | 99-115 | expanded | denotes | tubulin alpha-1A |
| SS2_23528852_1_0 | 117-123 | abbr | denotes | TUBA1A |
| AE1_23528852_1_0 | SS1_23528852_1_0 | SS2_23528852_1_0 | abbreviatedTo | tubulin alpha-1A,TUBA1A |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 42-55 | HP:0001339 | denotes | lissencephaly |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 60-80 | ORDO:388 | denotes | Hirschsprung disease |