PubMed:17033974 / 642-848
Annnotations
TEST-DiseaseOrPhenotypicFeature
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T2 | 83-98 | DiseaseOrPhenotypicFeature | denotes | night blindness | D009755 |
TEST-OrganismTaxon
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T4 | 37-45 | OrganismTaxon | denotes | patients |
Test-SequenceVariant
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 183-188 | SequenceVariant | denotes | 2406C |
Test-GeneOrGeneProduct
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T11 | 197-205 | GeneOrGeneProduct | denotes | CACNA2D4 |
Test-merged
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T2 | 83-98 | DiseaseOrPhenotypicFeature | denotes | night blindness | D009755 |
T13510 | 37-45 | OrganismTaxon | denotes | patients | |
T11 | 197-205 | GeneOrGeneProduct | denotes | CACNA2D4 | |
T84447 | 183-188 | SequenceVariant | denotes | 2406C |
Test-merged-2
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T84447 | 183-188 | SequenceVariant | denotes | 2406C | |
T11 | 197-205 | GeneOrGeneProduct | denotes | CACNA2D4 | |
T13510 | 37-45 | OrganismTaxon | denotes | patients | |
T2 | 83-98 | DiseaseOrPhenotypicFeature | denotes | night blindness | D009755 |
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
TextSentencer_T6 | 0-206 | Sentence | denotes | We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C-->A) in CACNA2D4. |
T6 | 0-206 | Sentence | denotes | We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C-->A) in CACNA2D4. |
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T3 | 83-98 | HP_0000662 | denotes | night blindness |
T4 | 89-98 | HP_0000618 | denotes | blindness |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
17033974-5#197#205#gene93589 | 197-205 | gene93589 | denotes | CACNA2D4 |
17033974-5#83#98#diseaseC0028077 | 83-98 | diseaseC0028077 | denotes | night blindness |
197#205#gene9358983#98#diseaseC0028077 | 17033974-5#197#205#gene93589 | 17033974-5#83#98#diseaseC0028077 | associated_with | CACNA2D4,night blindness |
PubCasesHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
AB1 | 89-98 | HP:0000618 | denotes | blindness |
tmVarCorpus
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 181-192 | DNAMutation:c|SUB|C|2406|A | denotes | c.2406C-->A |