PubMed:12746442 / 89-335
Annnotations
PubTator4TogoVar
| Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
|---|---|---|---|---|---|
| 12746442_0 | 64-68 | ProteinMutation | denotes | S75R | rs1357942068 |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T2 | 0-246 | Sentence | denotes | This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina. |
| T2 | 0-246 | Sentence | denotes | This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in patients from Germany, England, and Argentina. |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 171-196 | HP_0003344 | denotes | 3-methylglutaric aciduria |
| T2 | 188-196 | HP_0012072 | denotes | aciduria |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 171-196 | HP:0003344 | denotes | 3-methylglutaric aciduria |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 161-196 | ORDO:20 | denotes | 3-hydroxy-3-methylglutaric aciduria |
mondo_disease
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 161-196 | Disease | denotes | 3-hydroxy-3-methylglutaric aciduria | http://purl.obolibrary.org/obo/MONDO_0009520 |
HP-phenotype
| Id | Subject | Object | Predicate | Lexical cue | hp_id |
|---|---|---|---|---|---|
| T1 | 171-196 | Phenotype | denotes | 3-methylglutaric aciduria | HP:0003344 |
NCBITAXON
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| T1 | 236-245 | OrganismTaxon | denotes | Argentina | 23204|260511 |