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PubMed:17033974 JSONTXT

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TEST-DiseaseOrPhenotypicFeature

Id Subject Object Predicate Lexical cue #label
T1 86-100 DiseaseOrPhenotypicFeature denotes cone dystrophy D000077765
T2 725-740 DiseaseOrPhenotypicFeature denotes night blindness D009755
T3 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy D000077765
T4 1175-1189 DiseaseOrPhenotypicFeature denotes cone dystrophy D000077765

TEST-ChemicalEntity

Id Subject Object Predicate Lexical cue ID:
T1 26-33 ChemicalEntity denotes calcium D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984
T4 102-109 ChemicalEntity denotes Retinal http://purl.obolibrary.org/obo/CHEBI_17898
T5 183-190 ChemicalEntity denotes calcium D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984
T8 363-370 ChemicalEntity denotes retinal D012172|http://purl.obolibrary.org/obo/CHEBI_15035
T10 482-489 ChemicalEntity denotes calcium D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984

TEST-OrganismTaxon

Id Subject Object Predicate Lexical cue
T1 328-333 OrganismTaxon denotes mouse
T2 533-538 OrganismTaxon denotes delta
T3 562-567 OrganismTaxon denotes human
T4 679-687 OrganismTaxon denotes patients
T5 967-975 OrganismTaxon denotes patients
T6 1092-1097 OrganismTaxon denotes human

Test-SequenceVariant

Id Subject Object Predicate Lexical cue
T1 825-830 SequenceVariant denotes 2406C

Test-GeneOrGeneProduct

Id Subject Object Predicate Lexical cue
T1 26-41 GeneOrGeneProduct denotes calcium-channel
T2 50-58 GeneOrGeneProduct denotes CACNA2D4
T3 183-199 GeneOrGeneProduct denotes calcium channels
T4 217-223 GeneOrGeneProduct denotes ribbon
T5 297-305 GeneOrGeneProduct denotes Cacna2d4
T6 411-417 GeneOrGeneProduct denotes ribbon
T7 450-458 GeneOrGeneProduct denotes Cacna2d4
T8 482-497 GeneOrGeneProduct denotes calcium-channel
T9 523-528 GeneOrGeneProduct denotes alpha
T10 580-588 GeneOrGeneProduct denotes CACNA2D4
T11 839-847 GeneOrGeneProduct denotes CACNA2D4
T12 1098-1106 GeneOrGeneProduct denotes CACNA2D4
T13 1125-1135 GeneOrGeneProduct denotes novel gene

Test-merged

Id Subject Object Predicate Lexical cue #label ID:
T4 1175-1189 DiseaseOrPhenotypicFeature denotes cone dystrophy D000077765
T3 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy D000077765
T2 725-740 DiseaseOrPhenotypicFeature denotes night blindness D009755
T1 86-100 DiseaseOrPhenotypicFeature denotes cone dystrophy D000077765
T6 1092-1097 OrganismTaxon denotes human
T5 967-975 OrganismTaxon denotes patients
T13510 679-687 OrganismTaxon denotes patients
T20409 562-567 OrganismTaxon denotes human
T75998 533-538 OrganismTaxon denotes delta
T79427 328-333 OrganismTaxon denotes mouse
T13 1125-1135 GeneOrGeneProduct denotes novel gene
T12 1098-1106 GeneOrGeneProduct denotes CACNA2D4
T11 839-847 GeneOrGeneProduct denotes CACNA2D4
T10 580-588 GeneOrGeneProduct denotes CACNA2D4
T9 523-528 GeneOrGeneProduct denotes alpha
T8 482-497 GeneOrGeneProduct denotes calcium-channel
T7 450-458 GeneOrGeneProduct denotes Cacna2d4
T80950 411-417 GeneOrGeneProduct denotes ribbon
T43413 297-305 GeneOrGeneProduct denotes Cacna2d4
T38311 217-223 GeneOrGeneProduct denotes ribbon
T43972 183-199 GeneOrGeneProduct denotes calcium channels
T39385 50-58 GeneOrGeneProduct denotes CACNA2D4
T14074 26-41 GeneOrGeneProduct denotes calcium-channel
T36328 363-370 ChemicalEntity denotes retinal http://purl.obolibrary.org/obo/CHEBI_15035|D012172
T10600 102-109 ChemicalEntity denotes Retinal http://purl.obolibrary.org/obo/CHEBI_17898
T84447 825-830 SequenceVariant denotes 2406C

Test-merged-2

Id Subject Object Predicate Lexical cue #label ID:
T84447 825-830 SequenceVariant denotes 2406C
T6891 26-33 ChemicalEntity denotes calcium D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984
T10600 102-109 ChemicalEntity denotes Retinal http://purl.obolibrary.org/obo/CHEBI_17898
T26626 183-190 ChemicalEntity denotes calcium D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984
T36328 363-370 ChemicalEntity denotes retinal D012172|http://purl.obolibrary.org/obo/CHEBI_15035
T24001 482-489 ChemicalEntity denotes calcium D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984
T14074 26-41 GeneOrGeneProduct denotes calcium-channel
T39385 50-58 GeneOrGeneProduct denotes CACNA2D4
T43972 183-199 GeneOrGeneProduct denotes calcium channels
T38311 217-223 GeneOrGeneProduct denotes ribbon
T43413 297-305 GeneOrGeneProduct denotes Cacna2d4
T80950 411-417 GeneOrGeneProduct denotes ribbon
T7 450-458 GeneOrGeneProduct denotes Cacna2d4
T8 482-497 GeneOrGeneProduct denotes calcium-channel
T9 523-528 GeneOrGeneProduct denotes alpha
T10 580-588 GeneOrGeneProduct denotes CACNA2D4
T11 839-847 GeneOrGeneProduct denotes CACNA2D4
T12 1098-1106 GeneOrGeneProduct denotes CACNA2D4
T13 1125-1135 GeneOrGeneProduct denotes novel gene
T79427 328-333 OrganismTaxon denotes mouse
T75998 533-538 OrganismTaxon denotes delta
T20409 562-567 OrganismTaxon denotes human
T13510 679-687 OrganismTaxon denotes patients
T5 967-975 OrganismTaxon denotes patients
T6 1092-1097 OrganismTaxon denotes human
T1 86-100 DiseaseOrPhenotypicFeature denotes cone dystrophy D000077765
T2 725-740 DiseaseOrPhenotypicFeature denotes night blindness D009755
T3 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy D000077765
T4 1175-1189 DiseaseOrPhenotypicFeature denotes cone dystrophy D000077765

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-101 Sentence denotes Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.
TextSentencer_T2 102-233 Sentence denotes Retinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses.
TextSentencer_T3 234-445 Sentence denotes We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones.
TextSentencer_T4 446-544 Sentence denotes The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type.
TextSentencer_T5 545-641 Sentence denotes Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease.
TextSentencer_T6 642-848 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.
TextSentencer_T7 849-961 Sentence denotes The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame.
TextSentencer_T8 962-1028 Sentence denotes Both patients share symptoms of slowly progressing cone dystrophy.
TextSentencer_T9 1029-1190 Sentence denotes These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy.
T1 0-101 Sentence denotes Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.
T2 102-233 Sentence denotes Retinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses.
T3 234-445 Sentence denotes We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones.
T4 446-544 Sentence denotes The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type.
T5 545-641 Sentence denotes Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease.
T6 642-848 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.
T7 849-961 Sentence denotes The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame.
T8 962-1028 Sentence denotes Both patients share symptoms of slowly progressing cone dystrophy.
T9 1029-1190 Sentence denotes These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1098-1106 gene:93589 denotes CACNA2D4
T1 1175-1189 disease:C0730290 denotes cone dystrophy
R1 T0 T1 associated_with CACNA2D4,cone dystrophy

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 363-396 HP_0000479 denotes retinal signaling and an abnormal
T2 363-396 HP_0007901 denotes retinal signaling and an abnormal
T3 725-740 HP_0000662 denotes night blindness
T4 731-740 HP_0000618 denotes blindness
T5 1155-1174 HP_0000007 denotes autosomal recessive

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
17033974-0#50#58#gene93589 50-58 gene93589 denotes CACNA2D4
17033974-0#86#100#diseaseC0730290 86-100 diseaseC0730290 denotes cone dystrophy
17033974-5#197#205#gene93589 839-847 gene93589 denotes CACNA2D4
17033974-5#83#98#diseaseC0028077 725-740 diseaseC0028077 denotes night blindness
50#58#gene9358986#100#diseaseC0730290 17033974-0#50#58#gene93589 17033974-0#86#100#diseaseC0730290 associated_with CACNA2D4,cone dystrophy
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 731-740 HP:0000618 denotes blindness

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 86-100 ORDO:1871 denotes cone dystrophy
AB1 1013-1027 ORDO:1871 denotes cone dystrophy
AB2 1175-1189 ORDO:1871 denotes cone dystrophy

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 823-834 DNAMutation:c|SUB|C|2406|A denotes c.2406C-->A