PubMed:10419498 / 477-689
Annnotations
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T3 | 36-44 | HP_0003198 | denotes | myopathy |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10419498-3#82#88#gene1291 | 82-88 | gene1291 | denotes | COL6A1 |
| 10419498-3#28#44#diseaseC1834674 | 28-44 | diseaseC1834674 | denotes | Bethlem myopathy |
| 82#88#gene129128#44#diseaseC1834674 | 10419498-3#82#88#gene1291 | 10419498-3#28#44#diseaseC1834674 | associated_with | COL6A1,Bethlem myopathy |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB2 | 36-44 | HP:0003198 | denotes | myopathy |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB2 | 28-44 | ORDO:610 | denotes | Bethlem myopathy |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T4 | 0-212 | Sentence | denotes | We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain. |
| T4 | 0-212 | Sentence | denotes | We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 82-88 | gene:1291 | denotes | COL6A1 |
| T1 | 28-44 | disease:C1834674 | denotes | Bethlem myopathy |
| R1 | T0 | T1 | associated_with | COL6A1,Bethlem myopathy |
HP-phenotype
| Id | Subject | Object | Predicate | Lexical cue | hp_id |
|---|---|---|---|---|---|
| T3 | 36-44 | Phenotype | denotes | myopathy | HP:0003198 |
mondo_disease
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T5 | 28-44 | Disease | denotes | Bethlem myopathy | http://purl.obolibrary.org/obo/MONDO_0008029|http://purl.obolibrary.org/obo/MONDO_0024530 |