PubMed:10029606 / 0-279
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-253 | Sentence | denotes | Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. |
| T1 | 0-253 | Sentence | denotes | Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10029606-0#73#78#gene212 | 73-78 | gene212 | denotes | ALAS2 |
| 10029606-0#93#122#diseaseC0221018 | 93-122 | diseaseC0221018 | denotes | X-linked sideroblastic anemia |
| 10029606-0#177#190#diseaseC0282193 | 177-190 | diseaseC0282193 | denotes | iron overload |
| 10029606-0#226#252#diseaseC0392514 | 226-252 | diseaseC0392514 | denotes | hereditary hemochromatosis |
| 73#78#gene21293#122#diseaseC0221018 | 10029606-0#73#78#gene212 | 10029606-0#93#122#diseaseC0221018 | associated_with | ALAS2,X-linked sideroblastic anemia |
| 73#78#gene212177#190#diseaseC0282193 | 10029606-0#73#78#gene212 | 10029606-0#177#190#diseaseC0282193 | associated_with | ALAS2,iron overload |
| 73#78#gene212226#252#diseaseC0392514 | 10029606-0#73#78#gene212 | 10029606-0#226#252#diseaseC0392514 | associated_with | ALAS2,hereditary hemochromatosis |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 102-122 | HP:0001924 | denotes | sideroblastic anemia |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 93-122 | ORDO:75563 | denotes | X-linked sideroblastic anemia |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 254-262 | HP_0001417 | denotes | X-linked |