PubMed:20106987 / 0-199
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-120 | Sentence | denotes | Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 10-16 | gene:1292 | denotes | COL6A2 |
| T1 | 50-87 | disease:C0410179 | denotes | Ullrich congenital muscular dystrophy |
| R1 | T0 | T1 | associated_with | COL6A2,Ullrich congenital muscular dystrophy |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 129-158 | HP_0003741 | denotes | congenital muscular dystrophy |
| T2 | 140-158 | HP_0003560 | denotes | muscular dystrophy |
Allie
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| SS1_20106987_1_0 | 121-158 | expanded | denotes | Ullrich congenital muscular dystrophy |
| SS2_20106987_1_0 | 160-164 | abbr | denotes | UCMD |
| AE1_20106987_1_0 | SS1_20106987_1_0 | SS2_20106987_1_0 | abbreviatedTo | Ullrich congenital muscular dystrophy,UCMD |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 20106987-0#10#16#gene1292 | 10-16 | gene1292 | denotes | COL6A2 |
| 20106987-0#50#87#diseaseC0410179 | 50-87 | diseaseC0410179 | denotes | Ullrich congenital muscular dystrophy |
| 10#16#gene129250#87#diseaseC0410179 | 20106987-0#10#16#gene1292 | 20106987-0#50#87#diseaseC0410179 | associated_with | COL6A2,Ullrich congenital muscular dystrophy |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 129-158 | HP:0003741 | denotes | congenital muscular dystrophy |
| TI1 | 58-87 | HP:0003741 | denotes | congenital muscular dystrophy |
mondo_disease
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 50-87 | Disease | denotes | Ullrich congenital muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0000355|http://purl.obolibrary.org/obo/MONDO_0009681 |
| T3 | 121-158 | Disease | denotes | Ullrich congenital muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0000355|http://purl.obolibrary.org/obo/MONDO_0009681 |
| T5 | 160-164 | Disease | denotes | UCMD | http://purl.obolibrary.org/obo/MONDO_0000355 |
HP-phenotype
| Id | Subject | Object | Predicate | Lexical cue | hp_id |
|---|---|---|---|---|---|
| T1 | 58-87 | Phenotype | denotes | congenital muscular dystrophy | HP:0003560 |
| T2 | 129-158 | Phenotype | denotes | congenital muscular dystrophy | HP:0003560 |