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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-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

biored-valid

Id Subject Object Predicate Lexical cue
T1 26-33 ChemicalEntity denotes calcium
T2 50-58 GeneOrGeneProduct denotes CACNA2D4
T3 86-100 DiseaseOrPhenotypicFeature denotes cone dystrophy
T4 183-190 ChemicalEntity denotes calcium
T5 297-305 GeneOrGeneProduct denotes Cacna2d4
T6 328-333 OrganismTaxon denotes mouse
T7 450-458 GeneOrGeneProduct denotes Cacna2d4
T8 475-543 GeneOrGeneProduct denotes l-type calcium-channel auxiliary subunit of the alpha (2) delta type
T9 562-567 OrganismTaxon denotes human
T10 580-588 GeneOrGeneProduct denotes CACNA2D4
T11 679-687 OrganismTaxon denotes patients
T12 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T13 823-834 SequenceVariant denotes c.2406C-->A
T14 839-847 GeneOrGeneProduct denotes CACNA2D4
T15 967-975 OrganismTaxon denotes patients
T16 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy
T17 1092-1097 OrganismTaxon denotes human
T18 1098-1106 GeneOrGeneProduct denotes CACNA2D4
T19 1175-1189 DiseaseOrPhenotypicFeature denotes cone dystrophy

biored-valid-deepseek-nr-ng

Id Subject Object Predicate Lexical cue
T1 0-8 SequenceVariant denotes Mutation
T2 26-49 ChemicalEntity denotes calcium-channel subunit
T3 50-58 GeneOrGeneProduct denotes CACNA2D4
T4 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T5 102-109 DiseaseOrPhenotypicFeature denotes Retinal
T6 157-190 ChemicalEntity denotes high voltage-gated l-type calcium
T7 259-280 SequenceVariant denotes truncating frameshift
T8 281-289 SequenceVariant denotes mutation
T9 297-310 GeneOrGeneProduct denotes Cacna2d4 gene
T10 316-327 OrganismTaxon denotes spontaneous
T11 328-333 OrganismTaxon denotes mouse
T12 334-340 OrganismTaxon denotes mutant
T13 363-370 DiseaseOrPhenotypicFeature denotes retinal
T14 411-426 DiseaseOrPhenotypicFeature denotes ribbon synapses
T15 430-434 DiseaseOrPhenotypicFeature denotes rods
T16 439-444 DiseaseOrPhenotypicFeature denotes cones
T17 450-463 GeneOrGeneProduct denotes Cacna2d4 gene
T18 475-497 ChemicalEntity denotes l-type calcium-channel
T19 498-515 ChemicalEntity denotes auxiliary subunit
T20 523-538 ChemicalEntity denotes alpha (2) delta
T21 545-554 SequenceVariant denotes Mutations
T22 580-588 GeneOrGeneProduct denotes CACNA2D4
T23 633-640 DiseaseOrPhenotypicFeature denotes disease
T24 655-663 SequenceVariant denotes mutation
T25 679-687 OrganismTaxon denotes patients
T26 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T27 763-771 OrganismTaxon denotes siblings
T28 787-797 SequenceVariant denotes homozygous
T29 798-821 SequenceVariant denotes nucleotide substitution
T30 823-834 SequenceVariant denotes c.2406C-->A
T31 839-847 GeneOrGeneProduct denotes CACNA2D4
T32 853-861 SequenceVariant denotes mutation
T33 875-895 SequenceVariant denotes premature stop codon
T34 942-960 SequenceVariant denotes open reading frame
T35 982-990 DiseaseOrPhenotypicFeature denotes symptoms
T36 994-1012 DiseaseOrPhenotypicFeature denotes slowly progressing
T37 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy
T38 1035-1043 DiseaseOrPhenotypicFeature denotes findings
T39 1131-1142 SequenceVariant denotes gene defect
T40 1155-1189 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy

biored-valid-deepseek-nr-g

Id Subject Object Predicate Lexical cue
T1 0-8 SequenceVariant denotes Mutation
T2 50-58 GeneOrGeneProduct denotes CACNA2D4
T3 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T4 102-109 DiseaseOrPhenotypicFeature denotes Retinal
T5 110-137 DiseaseOrPhenotypicFeature denotes signal transmission depends
T6 183-199 ChemicalEntity denotes calcium channels
T7 203-232 DiseaseOrPhenotypicFeature denotes photoreceptor ribbon synapses
T8 259-269 SequenceVariant denotes truncating
T9 270-280 SequenceVariant denotes frameshift
T10 281-289 SequenceVariant denotes mutation
T11 297-305 GeneOrGeneProduct denotes Cacna2d4
T12 306-310 GeneOrGeneProduct denotes gene
T13 316-327 SequenceVariant denotes spontaneous
T14 328-333 OrganismTaxon denotes mouse
T15 334-340 SequenceVariant denotes mutant
T16 346-370 DiseaseOrPhenotypicFeature denotes profound loss of retinal
T17 371-380 DiseaseOrPhenotypicFeature denotes signaling
T18 388-396 DiseaseOrPhenotypicFeature denotes abnormal
T19 397-407 DiseaseOrPhenotypicFeature denotes morphology
T20 411-417 DiseaseOrPhenotypicFeature denotes ribbon
T21 418-426 DiseaseOrPhenotypicFeature denotes synapses
T22 430-434 DiseaseOrPhenotypicFeature denotes rods
T23 439-444 DiseaseOrPhenotypicFeature denotes cones
T24 450-458 GeneOrGeneProduct denotes Cacna2d4
T25 459-463 GeneOrGeneProduct denotes gene
T26 464-471 GeneOrGeneProduct denotes encodes
T27 475-481 ChemicalEntity denotes l-type
T28 482-497 ChemicalEntity denotes calcium-channel
T29 498-507 ChemicalEntity denotes auxiliary
T30 508-515 ChemicalEntity denotes subunit
T31 523-528 ChemicalEntity denotes alpha
T32 533-538 ChemicalEntity denotes delta
T33 545-554 SequenceVariant denotes Mutations
T34 562-567 OrganismTaxon denotes human
T35 568-578 GeneOrGeneProduct denotes orthologue
T36 580-588 GeneOrGeneProduct denotes CACNA2D4
T37 633-640 DiseaseOrPhenotypicFeature denotes disease
T38 655-663 SequenceVariant denotes mutation
T39 676-678 DiseaseOrPhenotypicFeature denotes 34
T40 679-687 DiseaseOrPhenotypicFeature denotes patients
T41 692-700 DiseaseOrPhenotypicFeature denotes received
T42 704-711 DiseaseOrPhenotypicFeature denotes initial
T43 712-721 DiseaseOrPhenotypicFeature denotes diagnosis
T44 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T45 763-771 DiseaseOrPhenotypicFeature denotes siblings
T46 776-784 SequenceVariant denotes detected
T47 787-797 SequenceVariant denotes homozygous
T48 798-808 SequenceVariant denotes nucleotide
T49 809-821 SequenceVariant denotes substitution
T50 823-834 SequenceVariant denotes c.2406C-->A
T51 839-847 GeneOrGeneProduct denotes CACNA2D4
T52 853-861 SequenceVariant denotes mutation
T53 862-872 SequenceVariant denotes introduces
T54 875-884 SequenceVariant denotes premature
T55 885-889 SequenceVariant denotes stop
T56 890-895 SequenceVariant denotes codon
T57 901-910 SequenceVariant denotes truncates
T58 911-920 SequenceVariant denotes one-third
T59 928-941 SequenceVariant denotes corresponding
T60 942-946 SequenceVariant denotes open
T61 947-954 SequenceVariant denotes reading
T62 955-960 SequenceVariant denotes frame
T63 962-966 DiseaseOrPhenotypicFeature denotes Both
T64 967-975 DiseaseOrPhenotypicFeature denotes patients
T65 976-981 DiseaseOrPhenotypicFeature denotes share
T66 982-990 DiseaseOrPhenotypicFeature denotes symptoms
T67 994-1000 DiseaseOrPhenotypicFeature denotes slowly
T68 1001-1012 DiseaseOrPhenotypicFeature denotes progressing
T69 1013-1017 DiseaseOrPhenotypicFeature denotes cone
T70 1018-1027 DiseaseOrPhenotypicFeature denotes dystrophy
T71 1035-1043 DiseaseOrPhenotypicFeature denotes findings
T72 1044-1053 DiseaseOrPhenotypicFeature denotes represent
T73 1058-1063 DiseaseOrPhenotypicFeature denotes first
T74 1064-1070 DiseaseOrPhenotypicFeature denotes report
T75 1076-1084 SequenceVariant denotes mutation
T76 1092-1097 OrganismTaxon denotes human
T77 1098-1106 GeneOrGeneProduct denotes CACNA2D4
T78 1107-1111 GeneOrGeneProduct denotes gene
T79 1112-1115 DiseaseOrPhenotypicFeature denotes and
T80 1116-1122 DiseaseOrPhenotypicFeature denotes define
T81 1125-1130 DiseaseOrPhenotypicFeature denotes novel
T82 1136-1142 DiseaseOrPhenotypicFeature denotes defect
T83 1148-1154 DiseaseOrPhenotypicFeature denotes causes
T84 1155-1164 DiseaseOrPhenotypicFeature denotes autosomal
T85 1165-1174 DiseaseOrPhenotypicFeature denotes recessive

biored-valid-deepseek-r-ng

Id Subject Object Predicate Lexical cue
T1 0-8 SequenceVariant denotes Mutation
T2 26-33 ChemicalEntity denotes calcium
T3 50-58 GeneOrGeneProduct denotes CACNA2D4
T4 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T5 183-190 ChemicalEntity denotes calcium
T6 259-289 SequenceVariant denotes truncating frameshift mutation
T7 297-305 GeneOrGeneProduct denotes Cacna2d4
T8 328-333 OrganismTaxon denotes mouse
T9 562-567 OrganismTaxon denotes human
T10 580-588 GeneOrGeneProduct denotes CACNA2D4
T11 655-663 SequenceVariant denotes mutation
T12 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T13 787-835 SequenceVariant denotes homozygous nucleotide substitution (c.2406C-->A)
T14 875-895 SequenceVariant denotes premature stop codon
T15 994-1027 DiseaseOrPhenotypicFeature denotes slowly progressing cone dystrophy

biored-valid-deepseek-r-g

Id Subject Object Predicate Lexical cue
T1 50-58 GeneOrGeneProduct denotes CACNA2D4
T2 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T3 297-305 GeneOrGeneProduct denotes Cacna2d4
T4 328-333 OrganismTaxon denotes mouse
T5 346-380 DiseaseOrPhenotypicFeature denotes profound loss of retinal signaling
T6 388-426 DiseaseOrPhenotypicFeature denotes abnormal morphology of ribbon synapses
T7 562-567 OrganismTaxon denotes human
T8 580-588 GeneOrGeneProduct denotes CACNA2D4
T9 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T10 823-834 SequenceVariant denotes c.2406C-->A
T11 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy
T12 1155-1189 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy

biored-valid-gemini-nr-ng

Id Subject Object Predicate Lexical cue
T1 50-58 GeneOrGeneProduct denotes CACNA2D4
T2 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T3 183-190 ChemicalEntity denotes calcium
T4 297-305 GeneOrGeneProduct denotes Cacna2d4
T5 328-333 OrganismTaxon denotes mouse
T6 450-458 GeneOrGeneProduct denotes Cacna2d4
T7 580-588 GeneOrGeneProduct denotes CACNA2D4
T8 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T9 839-847 GeneOrGeneProduct denotes CACNA2D4
T10 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy
T11 1155-1189 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy

biored-valid-gemini-r-ng

Id Subject Object Predicate Lexical cue
T1 50-58 GeneOrGeneProduct denotes CACNA2D4
T2 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T3 176-199 GeneOrGeneProduct denotes l-type calcium channels
T4 259-289 SequenceVariant denotes truncating frameshift mutation
T5 297-310 GeneOrGeneProduct denotes Cacna2d4 gene
T6 328-333 OrganismTaxon denotes mouse
T7 346-380 DiseaseOrPhenotypicFeature denotes profound loss of retinal signaling
T8 388-426 DiseaseOrPhenotypicFeature denotes abnormal morphology of ribbon synapses
T9 450-463 GeneOrGeneProduct denotes Cacna2d4 gene
T10 475-515 GeneOrGeneProduct denotes l-type calcium-channel auxiliary subunit
T11 523-543 GeneOrGeneProduct denotes alpha (2) delta type
T12 562-567 OrganismTaxon denotes human
T13 580-588 GeneOrGeneProduct denotes CACNA2D4
T14 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T15 787-821 SequenceVariant denotes homozygous nucleotide substitution
T16 823-834 SequenceVariant denotes c.2406C-->A
T17 839-847 GeneOrGeneProduct denotes CACNA2D4
T18 853-861 SequenceVariant denotes mutation
T19 875-895 SequenceVariant denotes premature stop codon
T20 994-1027 DiseaseOrPhenotypicFeature denotes slowly progressing cone dystrophy
T21 1076-1084 SequenceVariant denotes mutation
T22 1092-1097 OrganismTaxon denotes human
T23 1098-1111 GeneOrGeneProduct denotes CACNA2D4 gene
T24 1131-1142 SequenceVariant denotes gene defect
T25 1155-1189 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy

biored-valid-gemini-r-g

Id Subject Object Predicate Lexical cue
T1 50-58 GeneOrGeneProduct denotes CACNA2D4
T2 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T3 176-199 GeneOrGeneProduct denotes l-type calcium channels
T4 297-305 GeneOrGeneProduct denotes Cacna2d4
T5 328-333 OrganismTaxon denotes mouse
T6 450-458 GeneOrGeneProduct denotes Cacna2d4
T7 475-543 GeneOrGeneProduct denotes l-type calcium-channel auxiliary subunit of the alpha (2) delta type
T8 562-567 OrganismTaxon denotes human
T9 580-588 GeneOrGeneProduct denotes CACNA2D4
T10 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T11 787-835 SequenceVariant denotes homozygous nucleotide substitution (c.2406C-->A)
T12 839-847 GeneOrGeneProduct denotes CACNA2D4
T13 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy
T14 1092-1097 OrganismTaxon denotes human
T15 1098-1106 GeneOrGeneProduct denotes CACNA2D4
T16 1155-1189 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy

biored-valid-gpt-nr-ng

Id Subject Object Predicate Lexical cue
T1 50-58 GeneOrGeneProduct denotes CACNA2D4
T2 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T3 183-190 ChemicalEntity denotes calcium
T4 297-305 GeneOrGeneProduct denotes Cacna2d4
T5 328-333 OrganismTaxon denotes mouse
T6 346-380 DiseaseOrPhenotypicFeature denotes profound loss of retinal signaling
T7 388-426 DiseaseOrPhenotypicFeature denotes abnormal morphology of ribbon synapses
T8 450-458 GeneOrGeneProduct denotes Cacna2d4
T9 562-567 OrganismTaxon denotes human
T10 580-588 GeneOrGeneProduct denotes CACNA2D4
T11 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T12 798-808 ChemicalEntity denotes nucleotide
T13 822-835 SequenceVariant denotes (c.2406C-->A)
T14 839-847 GeneOrGeneProduct denotes CACNA2D4
T15 1092-1097 OrganismTaxon denotes human
T16 1155-1189 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy

biored-valid-gpt-nr-g

Id Subject Object Predicate Lexical cue
T1 50-58 GeneOrGeneProduct denotes CACNA2D4
T2 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T3 297-310 GeneOrGeneProduct denotes Cacna2d4 gene
T4 328-333 OrganismTaxon denotes mouse
T5 450-463 GeneOrGeneProduct denotes Cacna2d4 gene
T6 562-567 OrganismTaxon denotes human
T7 580-588 GeneOrGeneProduct denotes CACNA2D4
T8 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T9 823-834 SequenceVariant denotes c.2406C-->A
T10 839-847 GeneOrGeneProduct denotes CACNA2D4
T11 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy
T12 1092-1097 OrganismTaxon denotes human
T13 1098-1111 GeneOrGeneProduct denotes CACNA2D4 gene
T14 1155-1189 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy

biored-valid-gpt-r-g

Id Subject Object Predicate Lexical cue
T1 26-33 ChemicalEntity denotes calcium
T2 50-58 GeneOrGeneProduct denotes CACNA2D4
T3 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T4 183-190 ChemicalEntity denotes calcium
T5 297-310 GeneOrGeneProduct denotes Cacna2d4 gene
T6 328-333 OrganismTaxon denotes mouse
T7 450-463 GeneOrGeneProduct denotes Cacna2d4 gene
T8 482-489 ChemicalEntity denotes calcium
T9 562-567 OrganismTaxon denotes human
T10 580-588 GeneOrGeneProduct denotes CACNA2D4
T11 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T12 823-834 SequenceVariant denotes c.2406C-->A
T13 839-847 GeneOrGeneProduct denotes CACNA2D4
T14 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy
T15 1092-1097 OrganismTaxon denotes human
T16 1098-1111 GeneOrGeneProduct denotes CACNA2D4 gene
T17 1155-1189 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy

biored-valid-gpt-r-ng

Id Subject Object Predicate Lexical cue
T1 26-49 GeneOrGeneProduct denotes calcium-channel subunit
T2 50-58 GeneOrGeneProduct denotes CACNA2D4
T3 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T4 176-199 GeneOrGeneProduct denotes l-type calcium channels
T5 297-305 GeneOrGeneProduct denotes Cacna2d4
T6 328-333 OrganismTaxon denotes mouse
T7 346-380 DiseaseOrPhenotypicFeature denotes profound loss of retinal signaling
T8 388-426 DiseaseOrPhenotypicFeature denotes abnormal morphology of ribbon synapses
T9 450-458 GeneOrGeneProduct denotes Cacna2d4
T10 475-515 GeneOrGeneProduct denotes l-type calcium-channel auxiliary subunit
T11 562-567 OrganismTaxon denotes human
T12 580-588 GeneOrGeneProduct denotes CACNA2D4
T13 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T14 798-808 ChemicalEntity denotes nucleotide
T15 823-834 SequenceVariant denotes c.2406C-->A
T16 839-847 GeneOrGeneProduct denotes CACNA2D4
T17 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy
T18 1092-1097 OrganismTaxon denotes human
T19 1098-1106 GeneOrGeneProduct denotes CACNA2D4
T20 1155-1189 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy

biored-valid-gemini-nr-g

Id Subject Object Predicate Lexical cue
T1 50-58 GeneOrGeneProduct denotes CACNA2D4
T2 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T3 176-199 GeneOrGeneProduct denotes l-type calcium channels
T4 297-305 GeneOrGeneProduct denotes Cacna2d4
T5 328-333 OrganismTaxon denotes mouse
T6 355-380 DiseaseOrPhenotypicFeature denotes loss of retinal signaling
T7 450-458 GeneOrGeneProduct denotes Cacna2d4
T8 475-497 GeneOrGeneProduct denotes l-type calcium-channel
T9 580-588 GeneOrGeneProduct denotes CACNA2D4
T10 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T11 839-847 GeneOrGeneProduct denotes CACNA2D4
T12 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy
T13 1155-1189 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy

biored-valid-gpt-r-m

Id Subject Object Predicate Lexical cue
T1 50-58 GeneOrGeneProduct denotes CACNA2D4
T2 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T3 176-199 GeneOrGeneProduct denotes l-type calcium channels
T4 297-305 GeneOrGeneProduct denotes Cacna2d4
T5 328-333 OrganismTaxon denotes mouse
T6 450-458 GeneOrGeneProduct denotes Cacna2d4
T7 562-567 OrganismTaxon denotes human
T8 580-588 GeneOrGeneProduct denotes CACNA2D4
T9 679-687 OrganismTaxon denotes patients
T10 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T11 823-834 SequenceVariant denotes c.2406C-->A
T12 839-847 GeneOrGeneProduct denotes CACNA2D4
T13 967-975 OrganismTaxon denotes patients
T14 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy
T15 1092-1097 OrganismTaxon denotes human
T16 1098-1106 GeneOrGeneProduct denotes CACNA2D4
T17 1155-1189 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy

biored-valid-gemini-r-m

Id Subject Object Predicate Lexical cue
T1 50-58 GeneOrGeneProduct denotes CACNA2D4
T2 66-100 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy
T3 157-199 GeneOrGeneProduct denotes high voltage-gated l-type calcium channels
T4 297-305 GeneOrGeneProduct denotes Cacna2d4
T5 328-333 OrganismTaxon denotes mouse
T6 355-380 DiseaseOrPhenotypicFeature denotes loss of retinal signaling
T7 388-426 DiseaseOrPhenotypicFeature denotes abnormal morphology of ribbon synapses
T8 450-458 GeneOrGeneProduct denotes Cacna2d4
T9 562-567 OrganismTaxon denotes human
T10 580-588 GeneOrGeneProduct denotes CACNA2D4
T11 679-687 OrganismTaxon denotes patients
T12 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T13 763-771 OrganismTaxon denotes siblings
T14 787-835 SequenceVariant denotes homozygous nucleotide substitution (c.2406C-->A)
T15 839-847 GeneOrGeneProduct denotes CACNA2D4
T16 875-895 DiseaseOrPhenotypicFeature denotes premature stop codon
T17 967-975 OrganismTaxon denotes patients
T18 1013-1027 DiseaseOrPhenotypicFeature denotes cone dystrophy
T19 1092-1097 OrganismTaxon denotes human
T20 1098-1106 GeneOrGeneProduct denotes CACNA2D4
T21 1155-1189 DiseaseOrPhenotypicFeature denotes autosomal recessive cone dystrophy

biored-valid-deepseek-r-m

Id Subject Object Predicate Lexical cue
T1 50-58 GeneOrGeneProduct denotes CACNA2D4
T2 86-100 DiseaseOrPhenotypicFeature denotes cone dystrophy
T3 297-305 GeneOrGeneProduct denotes Cacna2d4
T4 328-333 OrganismTaxon denotes mouse
T5 355-380 DiseaseOrPhenotypicFeature denotes loss of retinal signaling
T6 388-426 DiseaseOrPhenotypicFeature denotes abnormal morphology of ribbon synapses
T7 562-567 OrganismTaxon denotes human
T8 580-588 GeneOrGeneProduct denotes CACNA2D4
T9 725-740 DiseaseOrPhenotypicFeature denotes night blindness
T10 823-834 SequenceVariant denotes c.2406C-->A