PubMed:19110214
Annnotations
PMID_GLOBAL
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 12-30 | DiseaseOrPhenotypicFeature | denotes | skeletal dysplasia | 0005516 |
| T2 | 32-50 | DiseaseOrPhenotypicFeature | denotes | SEMD aggrecan type | 0013014 |
| T3 | 234-266 | DiseaseOrPhenotypicFeature | denotes | spondyloepimetaphyseal dysplasia | 0010248 |
| T4 | 1114-1117 | DiseaseOrPhenotypicFeature | denotes | ion | 0044688 |
| T5 | 1685-1703 | DiseaseOrPhenotypicFeature | denotes | skeletal dysplasia | 0005516 |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 1735-1743 | gene:176 | denotes | aggrecan |
| T1 | 1685-1703 | disease:C0410528 | denotes | skeletal dysplasia |
| R1 | T0 | T1 | associated_with | aggrecan,skeletal dysplasia |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 19110214-8#97#105#gene176 | 1735-1743 | gene176 | denotes | aggrecan |
| 19110214-8#47#65#diseaseC0029422 | 1685-1703 | diseaseC0029422 | denotes | skeletal dysplasia |
| 19110214-8#47#65#diseaseC0410528 | 1685-1703 | diseaseC0410528 | denotes | skeletal dysplasia |
| 97#105#gene17647#65#diseaseC0029422 | 19110214-8#97#105#gene176 | 19110214-8#47#65#diseaseC0029422 | associated_with | aggrecan,skeletal dysplasia |
| 97#105#gene17647#65#diseaseC0410528 | 19110214-8#97#105#gene176 | 19110214-8#47#65#diseaseC0410528 | associated_with | aggrecan,skeletal dysplasia |
tmVarCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 922-935 | DNAMutation:c|SUB|G|6799|A | denotes | c.6799G --> A |
| T2 | 953-961 | ProteinMutation:p|SUB|D|2267|N | denotes | p.D2267N |