PubMed:1429602 / 0-159
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-104 | Sentence | denotes | An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. |
| T1 | 0-104 | Sentence | denotes | An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 109-137 | HP_0002655 | denotes | spondyloepiphyseal dysplasia |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1429602-0#28#40#geners764943318 | 28-40 | geners764943318 | denotes | Gly853-->Glu |
| 1429602-0#85#103#diseaseC0542428 | 85-103 | diseaseC0542428 | denotes | hypochondrogenesis |
| 28#40#geners76494331885#103#diseaseC0542428 | 1429602-0#28#40#geners764943318 | 1429602-0#85#103#diseaseC0542428 | associated_with | Gly853-->Glu,hypochondrogenesis |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1429602-0#49#75#gene1280 | 49-75 | gene1280 | denotes | collagen alpha 1(II) chain |
| 1429602-0#85#103#diseaseC0542428 | 85-103 | diseaseC0542428 | denotes | hypochondrogenesis |
| 49#75#gene128085#103#diseaseC0542428 | 1429602-0#49#75#gene1280 | 1429602-0#85#103#diseaseC0542428 | associated_with | collagen alpha 1(II) chain,hypochondrogenesis |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 109-137 | HP:0002655 | denotes | spondyloepiphyseal dysplasia |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 49-75 | gene:1280 | denotes | collagen alpha 1(II) chain |
| T1 | 85-103 | disease:C0542428 | denotes | hypochondrogenesis |
| R1 | T0 | T1 | associated_with | collagen alpha 1(II) chain,hypochondrogenesis |
mondo_disease
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 85-103 | Disease | denotes | hypochondrogenesis | http://purl.obolibrary.org/obo/MONDO_0008702|http://purl.obolibrary.org/obo/MONDO_0008703|http://purl.obolibrary.org/obo/MONDO_0019669 |
| T4 | 109-137 | Disease | denotes | spondyloepiphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0007738 |
HP-phenotype
| Id | Subject | Object | Predicate | Lexical cue | hp_id |
|---|---|---|---|---|---|
| T1 | 109-137 | Phenotype | denotes | spondyloepiphyseal dysplasia | HP:0002655 |