PubMed:25138275 / 138-260
Annnotations
ggdb-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T2 | 17-22 | https://acgg.asia/db/ggdb/info/gg171 | denotes | LARGE |
GGDB-2020
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T2 | 17-22 | https://acgg.asia/db/ggdb/info/gg171 | denotes | LARGE |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T2 | 0-122 | Sentence | denotes | Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities. |
Glycosmos6-MAT
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 102-107 | http://purl.obolibrary.org/obo/MAT_0000098 | denotes | brain |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 52-81 | HP_0003741 | denotes | congenital muscular dystrophy |
| T2 | 63-81 | HP_0003560 | denotes | muscular dystrophy |
| T3 | 102-121 | HP_0012443 | denotes | brain abnormalities |
glycogenes
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-GlycoGenes20190927-B_T2 | 17-22 | https://acgg.asia/db/ggdb/info/gg171 | denotes | LARGE |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 54-83 | HP:0003741 | denotes | ngenital muscular dystrophy ( |
mondo_disease
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 52-81 | Disease | denotes | congenital muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0019950 |
| T2 | 83-86 | Disease | denotes | CMD | http://purl.obolibrary.org/obo/MONDO_0007251|http://purl.obolibrary.org/obo/MONDO_0007397|http://purl.obolibrary.org/obo/MONDO_0019950|http://purl.obolibrary.org/obo/MONDO_0044875 |
Anatomy-MAT
| Id | Subject | Object | Predicate | Lexical cue | mat_id |
|---|---|---|---|---|---|
| T1 | 102-107 | Body_part | denotes | brain | http://purl.obolibrary.org/obo/MAT_0000098 |
HP-phenotype
| Id | Subject | Object | Predicate | Lexical cue | hp_id |
|---|---|---|---|---|---|
| T1 | 52-81 | Phenotype | denotes | congenital muscular dystrophy | HP:0003560 |
| T2 | 83-86 | Phenotype | denotes | CMD | HP:0003560 |
Anatomy-UBERON
| Id | Subject | Object | Predicate | Lexical cue | uberon_id |
|---|---|---|---|---|---|
| T1 | 102-107 | Body_part | denotes | brain | http://purl.obolibrary.org/obo/UBERON_0000955|http://purl.obolibrary.org/obo/UBERON_6110636 |