PubMed:23924083 / 94-304
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T3 | 0-210 | Sentence | denotes | Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene. |
| T3 | 0-210 | Sentence | denotes | Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 198-204 | gene:3766 | denotes | KCNJ10 |
| T1 | 81-138 | disease:C2748572 | denotes | epilepsy, ataxia, sensorineural deafness, and tubulopathy |
| T2 | 198-204 | gene:3766 | denotes | KCNJ10 |
| T3 | 140-153 | disease:C2748572 | denotes | EAST syndrome |
| R1 | T0 | T1 | associated_with | KCNJ10,"epilepsy, ataxia, sensorineural deafness, and tubulopathy" |
| R2 | T2 | T3 | associated_with | KCNJ10,EAST syndrome |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 91-97 | HP_0001251 | denotes | ataxia |
| T2 | 99-121 | HP_0000407 | denotes | sensorineural deafness |
| T3 | 113-121 | HP_0000365 | denotes | deafness |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 23924083-1#198#204#gene3766 | 198-204 | gene3766 | denotes | KCNJ10 |
| 23924083-1#81#138#diseaseC2748572 | 81-138 | diseaseC2748572 | denotes | epilepsy, ataxia, sensorineural deafness, and tubulopathy |
| 23924083-1#140#153#diseaseC2748572 | 140-153 | diseaseC2748572 | denotes | EAST syndrome |
| 198#204#gene376681#138#diseaseC2748572 | 23924083-1#198#204#gene3766 | 23924083-1#81#138#diseaseC2748572 | associated_with | KCNJ10,"epilepsy, ataxia, sensorineural deafness, and tubulopathy" |
| 198#204#gene3766140#153#diseaseC2748572 | 23924083-1#198#204#gene3766 | 23924083-1#140#153#diseaseC2748572 | associated_with | KCNJ10,EAST syndrome |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 91-97 | HP:0001251 | denotes | ataxia |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 140-153 | ORDO:199343 | denotes | EAST syndrome |