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PubMed:17033974 / 642-848 JSONTXT

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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