PubMed:20949073 / 436-617
Annnotations
LitCoin-entities
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| 8148 | 95-110 | DiseaseOrPhenotypicFeature | denotes | cystic fibrosis | MESH:D003550 |
| 8149 | 111-119 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 8150 | 139-144 | SequenceVariant | denotes | E831X | DBSNP:rs397508387 |
| 8151 | 155-162 | SequenceVariant | denotes | 2623G>T | DBSNP:rs397508387 |
| 8152 | 171-175 | GeneOrGeneProduct | denotes | CFTR | NCBIGene:1080 |
LitCoin-sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T5 | 0-181 | Sentence | denotes | We identified such a mechanism as the origin of the mild to asymptomatic phenotype observed in cystic fibrosis patients homozygous for the E831X mutation (2623G>T) in the CFTR gene. |
LitCoin_Mondo
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 95-110 | DiseaseOrPhenotypicFeature | denotes | cystic fibrosis | 0009061 |
LitCoin-SeqVar
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 139-144 | SequenceVariant | denotes | E831X |
| T2 | 155-160 | SequenceVariant | denotes | 2623G |
LitCoin-GeneOrGeneProduct-v0
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T8 | 95-101 | GeneOrGeneProduct | denotes | cystic |
| T9 | 145-153 | GeneOrGeneProduct | denotes | mutation |
| T10 | 171-175 | GeneOrGeneProduct | denotes | CFTR |
LitCoin-GeneOrGeneProduct-v2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T3 | 95-101 | GeneOrGeneProduct | denotes | cystic |
| T4 | 171-175 | GeneOrGeneProduct | denotes | CFTR |
LitCoin-Disease-MeSH
| Id | Subject | Object | Predicate | Lexical cue | originalLabel |
|---|---|---|---|---|---|
| T3 | 95-110 | DiseaseOrPhenotypicFeature | denotes | cystic fibrosis | D003550 |
LitCoin_Mondo_095
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T3 | 95-110 | DiseaseOrPhenotypicFeature | denotes | cystic fibrosis | 0009061 |
LitCoin-GeneOrGeneProduct-v3
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 171-175 | GeneOrGeneProduct | denotes | CFTR |
LitCoin-MeSH-Disease-2
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T3 | 95-110 | DiseaseOrPhenotypicFeature | denotes | cystic fibrosis | D003550 |
LitCoin-MONDO_bioort2019
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 95-110 | DiseaseOrPhenotypicFeature | denotes | cystic fibrosis | D003550 |
LitCoin-NCBITaxon-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 111-119 | OrganismTaxon | denotes | patients |
LitCoin-training-merged
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T2819 | 171-175 | GeneOrGeneProduct | denotes | CFTR | |
| T19009 | 95-110 | DiseaseOrPhenotypicFeature | denotes | cystic fibrosis | D003550 |
| T33933 | 111-119 | OrganismTaxon | denotes | patients | |
| T2 | 155-160 | SequenceVariant | denotes | 2623G | |
| T19178 | 139-144 | SequenceVariant | denotes | E831X |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 171-175 | gene:1080 | denotes | CFTR |
| T1 | 95-110 | disease:C0010674 | denotes | cystic fibrosis |
| R1 | T0 | T1 | associated_with | CFTR,cystic fibrosis |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 20949073-4#171#175#gene1080 | 171-175 | gene1080 | denotes | CFTR |
| 20949073-4#95#110#diseaseC0010674 | 95-110 | diseaseC0010674 | denotes | cystic fibrosis |
| 171#175#gene108095#110#diseaseC0010674 | 20949073-4#171#175#gene1080 | 20949073-4#95#110#diseaseC0010674 | associated_with | CFTR,cystic fibrosis |
tmVarCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 139-144 | ProteinMutation:p|SUB|E|831|X | denotes | E831X |
| T2 | 155-162 | DNAMutation:|SUB|G|2623|T | denotes | 2623G>T |