PubMed:25678012
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-138 | Sentence | denotes | Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation. |
| TextSentencer_T2 | 139-220 | Sentence | denotes | Mutations in KCNJ11 cause majority of cases of permanent neonatal diabetes (PND). |
| TextSentencer_T3 | 221-350 | Sentence | denotes | Multiple reports of PND with successful transitioning to oral sulfonylurea had been reported except for those with DEND syndrome. |
| TextSentencer_T4 | 351-455 | Sentence | denotes | This case report highlights a case of successful sulfonylurea treatment in a patient with DEND syndrome. |
| T1 | 0-138 | Sentence | denotes | Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation. |
| T2 | 139-220 | Sentence | denotes | Mutations in KCNJ11 cause majority of cases of permanent neonatal diabetes (PND). |
| T3 | 221-350 | Sentence | denotes | Multiple reports of PND with successful transitioning to oral sulfonylurea had been reported except for those with DEND syndrome. |
| T4 | 351-455 | Sentence | denotes | This case report highlights a case of successful sulfonylurea treatment in a patient with DEND syndrome. |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 336-340 | HP_0011088 | denotes | DEND |
| T2 | 441-445 | HP_0011088 | denotes | DEND |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 25678012-0#117#121#geners80356611 | 117-121 | geners80356611 | denotes | R50P |
| 25678012-0#85#93#diseaseC0036572 | 85-93 | diseaseC0036572 | denotes | seizures |
| 25678012-0#95#99#diseaseC1853564 | 95-99 | diseaseC1853564 | denotes | DEND |
| 117#121#geners8035661185#93#diseaseC0036572 | 25678012-0#117#121#geners80356611 | 25678012-0#85#93#diseaseC0036572 | associated_with | R50P,seizures |
| 117#121#geners8035661195#99#diseaseC1853564 | 25678012-0#117#121#geners80356611 | 25678012-0#95#99#diseaseC1853564 | associated_with | R50P,DEND |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 25678012-0#122#128#gene3767 | 122-128 | gene3767 | denotes | KCNJ11 |
| 25678012-0#85#93#diseaseC0036572 | 85-93 | diseaseC0036572 | denotes | seizures |
| 25678012-0#95#99#diseaseC1853564 | 95-99 | diseaseC1853564 | denotes | DEND |
| 122#128#gene376785#93#diseaseC0036572 | 25678012-0#122#128#gene3767 | 25678012-0#85#93#diseaseC0036572 | associated_with | KCNJ11,seizures |
| 122#128#gene376795#99#diseaseC1853564 | 25678012-0#122#128#gene3767 | 25678012-0#95#99#diseaseC1853564 | associated_with | KCNJ11,DEND |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 85-93 | HP:0001250 | denotes | seizures |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 95-108 | ORDO:79134 | denotes | DEND syndrome |
| AB1 | 336-349 | ORDO:79134 | denotes | DEND syndrome |
| AB2 | 441-454 | ORDO:79134 | denotes | DEND syndrome |