PubMed:11558822 / 638-847
Annnotations
PubTator4TogoVar
| Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
|---|---|---|---|---|---|
| 11558822_0 | 87-124 | ProteinMutation | denotes | C/T transition in codon 355 (CGA>TGA) | rs72549381 |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T2 | 60-66 | http://purl.obolibrary.org/obo/UBERON_0000964 | denotes | cornea |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB2 | 34-45 | HP:0000557 | denotes | buphthalmos |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T8 | 0-209 | Sentence | denotes | For patient 1, a newborn boy with buphthalmos and an opaque cornea, a novel homozygous C/T transition in codon 355 (CGA>TGA) led to a predicted nonsense codon Arg355X truncating the protein by 188 amino acids. |
| T8 | 0-209 | Sentence | denotes | For patient 1, a newborn boy with buphthalmos and an opaque cornea, a novel homozygous C/T transition in codon 355 (CGA>TGA) led to a predicted nonsense codon Arg355X truncating the protein by 188 amino acids. |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T2 | 60-66 | http://purl.obolibrary.org/obo/UBERON_0000964 | denotes | cornea |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB2 | 34-45 | ORDO:98976 | denotes | buphthalmos |
PIR-corpus1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 182-189 | protein | denotes | protein |