PubMed:19394258 / 384-603
Annnotations
LitCoin-sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T4 | 0-219 | Sentence | denotes | This new DGUOK homozygous mutation (c.444-62C>A) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver. |
LitCoin-entities
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| 6026 | 9-14 | GeneOrGeneProduct | denotes | DGUOK | NCBIGene:1716 |
| 6027 | 36-47 | SequenceVariant | denotes | c.444-62C>A | c|SUB|C|444-62|A |
| 6028 | 73-81 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 6029 | 143-173 | DiseaseOrPhenotypicFeature | denotes | respiratory chain deficiencies | MESH:D028361 |
| 6030 | 178-205 | DiseaseOrPhenotypicFeature | denotes | mitochondrial DNA depletion | MESH:C580039 |
LitCoin-SeqVar
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 36-47 | SequenceVariant | denotes | c.444-62C>A |
LitCoin-GeneOrGeneProduct-v0
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T14 | 9-14 | GeneOrGeneProduct | denotes | DGUOK |
| T15 | 26-34 | GeneOrGeneProduct | denotes | mutation |
| T16 | 155-160 | GeneOrGeneProduct | denotes | chain |
| T17 | 178-191 | GeneOrGeneProduct | denotes | mitochondrial |
| T18 | 196-205 | GeneOrGeneProduct | denotes | depletion |
| T19 | 213-218 | GeneOrGeneProduct | denotes | liver |
LitCoin-GeneOrGeneProduct-v2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T9 | 9-14 | GeneOrGeneProduct | denotes | DGUOK |
| T10 | 155-160 | GeneOrGeneProduct | denotes | chain |
| T11 | 178-191 | GeneOrGeneProduct | denotes | mitochondrial |
| T12 | 213-218 | GeneOrGeneProduct | denotes | liver |
LitCoin-Disease-MeSH
| Id | Subject | Object | Predicate | Lexical cue | originalLabel |
|---|---|---|---|---|---|
| T3 | 143-173 | DiseaseOrPhenotypicFeature | denotes | respiratory chain deficiencies | D028361 |
| T4 | 178-205 | DiseaseOrPhenotypicFeature | denotes | mitochondrial DNA depletion | DISEASE |
LitCoin-GeneOrGeneProduct-v3
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T6 | 9-14 | GeneOrGeneProduct | denotes | DGUOK |
LitCoin-MeSH-Disease-2
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T4 | 143-173 | DiseaseOrPhenotypicFeature | denotes | respiratory chain deficiencies | D028361 |
| T5 | 178-205 | DiseaseOrPhenotypicFeature | denotes | mitochondrial DNA depletion | DISEASE |
LitCoin-MONDO_bioort2019
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T4 | 143-173 | DiseaseOrPhenotypicFeature | denotes | respiratory chain deficiencies | D028361 |
| T5 | 178-205 | DiseaseOrPhenotypicFeature | denotes | mitochondrial DNA depletion | DISEASE |
LitCoin-NCBITaxon-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T2 | 73-81 | OrganismTaxon | denotes | patients |
LitCoin-training-merged
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T6 | 9-14 | GeneOrGeneProduct | denotes | DGUOK | |
| T99729 | 178-205 | DiseaseOrPhenotypicFeature | denotes | mitochondrial DNA depletion | DISEASE |
| T1799 | 143-173 | DiseaseOrPhenotypicFeature | denotes | respiratory chain deficiencies | D028361 |
| T73141 | 73-81 | OrganismTaxon | denotes | patients | |
| T3536 | 36-47 | SequenceVariant | denotes | c.444-62C>A |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T2 | 9-14 | gene:1716 | denotes | DGUOK |
| T3 | 178-205 | disease:C0342782 | denotes | mitochondrial DNA depletion |
| T4 | 9-14 | gene:1716 | denotes | DGUOK |
| T5 | 143-173 | disease:C0949857 | denotes | respiratory chain deficiencies |
| R2 | T2 | T3 | associated_with | DGUOK,mitochondrial DNA depletion |
| R3 | T4 | T5 | associated_with | DGUOK,respiratory chain deficiencies |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 19394258-3#9#14#gene1716 | 9-14 | gene1716 | denotes | DGUOK |
| 19394258-3#143#173#diseaseC0949857 | 143-173 | diseaseC0949857 | denotes | respiratory chain deficiencies |
| 19394258-3#178#205#diseaseC0342782 | 178-205 | diseaseC0342782 | denotes | mitochondrial DNA depletion |
| 9#14#gene1716143#173#diseaseC0949857 | 19394258-3#9#14#gene1716 | 19394258-3#143#173#diseaseC0949857 | associated_with | DGUOK,respiratory chain deficiencies |
| 9#14#gene1716178#205#diseaseC0342782 | 19394258-3#9#14#gene1716 | 19394258-3#178#205#diseaseC0342782 | associated_with | DGUOK,mitochondrial DNA depletion |
tmVarCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 36-47 | DNAMutation:c|SUB|C|444-62|A | denotes | c.444-62C>A |