PubMed:15471865 / 761-942
Annnotations
Glycosmos6-MAT
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T6 | 142-145 | http://purl.obolibrary.org/obo/MAT_0000140 | denotes | eye |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 15471865-4#100#105#gene8671 | 100-105 | gene8671 | denotes | NBCe1 |
| 15471865-4#162#180#diseaseC0025362 | 162-180 | diseaseC0025362 | denotes | mental retardation |
| 15471865-4#162#180#diseaseC3714756 | 162-180 | diseaseC3714756 | denotes | mental retardation |
| 100#105#gene8671162#180#diseaseC0025362 | 15471865-4#100#105#gene8671 | 15471865-4#162#180#diseaseC0025362 | associated_with | NBCe1,mental retardation |
| 100#105#gene8671162#180#diseaseC3714756 | 15471865-4#100#105#gene8671 | 15471865-4#162#180#diseaseC3714756 | associated_with | NBCe1,mental retardation |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB3 | 125-129 | ORDO:47159 | denotes | pRTA |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T8 | 0-181 | Sentence | denotes | We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation. |
| T8 | 0-181 | Sentence | denotes | We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation. |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T3 | 142-145 | http://purl.obolibrary.org/obo/UBERON_0000970 | denotes | eye |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T12 | 100-105 | gene:8671 | denotes | NBCe1 |
| T13 | 162-180 | disease:C0025362 | denotes | mental retardation |
| R7 | T12 | T13 | associated_with | NBCe1,mental retardation |
Anatomy-MAT
| Id | Subject | Object | Predicate | Lexical cue | mat_id |
|---|---|---|---|---|---|
| T6 | 142-145 | Body_part | denotes | eye | http://purl.obolibrary.org/obo/MAT_0000140 |
mondo_disease
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T7 | 125-129 | Disease | denotes | pRTA | http://purl.obolibrary.org/obo/MONDO_0008369 |
| T8 | 162-180 | Disease | denotes | mental retardation | http://purl.obolibrary.org/obo/MONDO_0001071 |
Anatomy-UBERON
| Id | Subject | Object | Predicate | Lexical cue | uberon_id |
|---|---|---|---|---|---|
| T3 | 142-145 | Body_part | denotes | eye | http://purl.obolibrary.org/obo/UBERON_0000019|http://purl.obolibrary.org/obo/UBERON_0000970|http://purl.obolibrary.org/obo/UBERON_0010230 |
HP-phenotype
| Id | Subject | Object | Predicate | Lexical cue | hp_id |
|---|---|---|---|---|---|
| T7 | 125-129 | Phenotype | denotes | pRTA | HP:0002049 |
| T8 | 162-180 | Phenotype | denotes | mental retardation | HP:0001249 |