PubMed:23528852 / 367-524
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T4 | 0-157 | Sentence | denotes | Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. |
| T4 | 0-157 | Sentence | denotes | Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T12 | 145-151 | gene:7846 | denotes | TUBA1A |
| T13 | 86-104 | disease:C0014544 | denotes | epileptic seizures |
| R7 | T12 | T13 | associated_with | TUBA1A,epileptic seizures |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T2 | 41-54 | HP_0001339 | denotes | lissencephaly |
| T3 | 56-68 | HP_0000252 | denotes | microcephaly |
| T4 | 96-104 | HP_0001250 | denotes | seizures |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 23528852-0#42#55#diseaseC0266463 | 41-54 | diseaseC0266463 | denotes | lissencephaly |
| 23528852-3#145#151#gene7846 | 145-151 | gene7846 | denotes | TUBA1A |
| 23528852-3#86#104#diseaseC0014544 | 86-104 | diseaseC0014544 | denotes | epileptic seizures |
| 145#151#gene784686#104#diseaseC0014544 | 23528852-3#145#151#gene7846 | 23528852-3#86#104#diseaseC0014544 | associated_with | TUBA1A,epileptic seizures |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB2 | 41-54 | HP:0001339 | denotes | lissencephaly |
| AB3 | 56-68 | HP:0000252 | denotes | microcephaly |
| AB4 | 96-104 | HP:0001250 | denotes | seizures |