PubMed:2470760 / 851-1072
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T2 | 140-147 | gene:146 | denotes | alpha 1 |
| T3 | 174-214 | disease:C0268358 | denotes | perinatal lethal osteogenesis imperfecta |
| R2 | T2 | T3 | associated_with | alpha 1,perinatal lethal osteogenesis imperfecta |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 2470760-5#69#107#geners67525025 | 69-107 | geners67525025 | denotes | Gly----Val substitution at residue 256 |
| 2470760-5#174#214#diseaseC0268358 | 174-214 | diseaseC0268358 | denotes | perinatal lethal osteogenesis imperfecta |
| 69#107#geners67525025174#214#diseaseC0268358 | 2470760-5#69#107#geners67525025 | 2470760-5#174#214#diseaseC0268358 | associated_with | Gly----Val substitution at residue 256,perinatal lethal osteogenesis imperfecta |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T6 | 0-221 | Sentence | denotes | Sequence analysis of the amplified cDNA revealed a new, heterozygous Gly----Val substitution at residue 256 of the triple helical domain of alpha 1(I) chains produced by the perinatal lethal osteogenesis imperfecta cells. |
| T6 | 0-221 | Sentence | denotes | Sequence analysis of the amplified cDNA revealed a new, heterozygous Gly----Val substitution at residue 256 of the triple helical domain of alpha 1(I) chains produced by the perinatal lethal osteogenesis imperfecta cells. |
mondo_disease
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T4 | 184-214 | Disease | denotes | lethal osteogenesis imperfecta | http://purl.obolibrary.org/obo/MONDO_0008147 |