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PubMed:16186368 JSONTXT

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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-80 Sentence denotes Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations.
T2 81-89 Sentence denotes PURPOSE:
T3 90-273 Sentence denotes Mutations of the CYP4V2 gene, a novel family member of the cytochrome P450 genes on chromosome 4q35, have recently been identified in patients with Bietti crystalline dystrophy (BCD).
T4 274-422 Sentence denotes The aim of this study was to investigate the spectrum of mutations in this gene in BCD patients from Singapore, and to characterize their phenotype.
T5 423-431 Sentence denotes METHODS:
T6 432-503 Sentence denotes Nine patients with BCD from six families were recruited into the study.
T7 504-628 Sentence denotes The 11 exons of the CYP4V2 gene were amplified from genomic DNA of patients by polymerase chain reaction and then sequenced.
T8 629-805 Sentence denotes Detailed characterization of the patients' phenotype was performed with fundal photography, visual field testing, fundal fluorescein angiography, and electroretinography (ERG).
T9 806-814 Sentence denotes RESULTS:
T10 815-930 Sentence denotes Three pathogenic mutations were identified; two mutations, S482X and K386T, were novel and found in three patients.
T11 931-1131 Sentence denotes The third mutation, a previously identified 15-bp deletion that included the 3' splice site for exon 7, was found in all nine patients, with six patients carrying the deletion in the homozygous state.
T12 1132-1240 Sentence denotes Haplotype analysis in patients and controls indicated a founder effect for this deletion mutation in exon 7.
T13 1241-1292 Sentence denotes Clinical heterogeneity was present in the patients.
T14 1293-1427 Sentence denotes Compound heterozygotes for the deletion in exon 7 seemed to have more severe disease compared to patients homozygous for the deletion.
T15 1428-1554 Sentence denotes There was good correlation between clinical stage of disease and ERG changes, but age did not correlate with disease severity.
T16 1555-1567 Sentence denotes CONCLUSIONS:
T17 1568-1643 Sentence denotes This study identified novel mutations in the CYP4V2 gene as a cause of BCD.
T18 1644-1740 Sentence denotes A high carrier frequency for the 15-bp deletion in exon 7 may exist in the Singapore population.
T19 1741-1847 Sentence denotes Phenotype characterization showed clinical heterogeneity, and age did not correlate with disease severity.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 114-121 OrganismTaxon denotes gene, a NCBItxid:695940|NCBItxid:137249

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
2360 20-48 DiseaseOrPhenotypicFeature denotes Bietti crystalline dystrophy MESH:C535440
2361 49-57 OrganismTaxon denotes patients NCBITaxon:9606
2362 63-69 GeneOrGeneProduct denotes CYP4V2 NCBIGene:285440
2363 107-113 GeneOrGeneProduct denotes CYP4V2 NCBIGene:285440
2364 149-164 GeneOrGeneProduct denotes cytochrome P450 NCBIGene:285440
2365 224-232 OrganismTaxon denotes patients NCBITaxon:9606
2366 238-266 DiseaseOrPhenotypicFeature denotes Bietti crystalline dystrophy MESH:C535440
2367 268-271 DiseaseOrPhenotypicFeature denotes BCD MESH:C535440
2368 357-360 DiseaseOrPhenotypicFeature denotes BCD MESH:C535440
2369 361-369 OrganismTaxon denotes patients NCBITaxon:9606
2370 437-445 OrganismTaxon denotes patients NCBITaxon:9606
2371 451-454 DiseaseOrPhenotypicFeature denotes BCD MESH:C535440
2372 524-530 GeneOrGeneProduct denotes CYP4V2 NCBIGene:285440
2373 571-579 OrganismTaxon denotes patients NCBITaxon:9606
2374 662-670 OrganismTaxon denotes patients NCBITaxon:9606
2375 874-879 SequenceVariant denotes S482X DBSNP:rs146494374
2376 884-889 SequenceVariant denotes K386T DBSNP:rs199476200
2377 921-929 OrganismTaxon denotes patients NCBITaxon:9606
2378 975-989 SequenceVariant denotes 15-bp deletion c|DEL||15
2379 1057-1065 OrganismTaxon denotes patients NCBITaxon:9606
2380 1076-1084 OrganismTaxon denotes patients NCBITaxon:9606
2381 1154-1162 OrganismTaxon denotes patients NCBITaxon:9606
2382 1283-1291 OrganismTaxon denotes patients NCBITaxon:9606
2383 1390-1398 OrganismTaxon denotes patients NCBITaxon:9606
2384 1613-1619 GeneOrGeneProduct denotes CYP4V2 NCBIGene:285440
2385 1639-1642 DiseaseOrPhenotypicFeature denotes BCD MESH:C535440
2386 1677-1691 SequenceVariant denotes 15-bp deletion c|DEL||15

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 874-879 SequenceVariant denotes S482X
T2 884-889 SequenceVariant denotes K386T
T3 975-989 SequenceVariant denotes 15-bp deletion
T4 1677-1691 SequenceVariant denotes 15-bp deletion

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 27-38 GeneOrGeneProduct denotes crystalline
T2 63-69 GeneOrGeneProduct denotes CYP4V2
T3 70-79 GeneOrGeneProduct denotes mutations
T4 90-99 GeneOrGeneProduct denotes Mutations
T5 107-113 GeneOrGeneProduct denotes CYP4V2
T6 114-121 GeneOrGeneProduct denotes gene, a
T7 122-127 GeneOrGeneProduct denotes novel
T8 149-164 GeneOrGeneProduct denotes cytochrome P450
T9 245-256 GeneOrGeneProduct denotes crystalline
T10 328-340 GeneOrGeneProduct denotes of mutations
T11 423-430 GeneOrGeneProduct denotes METHODS
T12 432-436 GeneOrGeneProduct denotes Nine
T13 524-530 GeneOrGeneProduct denotes CYP4V2
T14 583-593 GeneOrGeneProduct denotes polymerase
T15 594-599 GeneOrGeneProduct denotes chain
T16 734-741 GeneOrGeneProduct denotes testing
T17 832-841 GeneOrGeneProduct denotes mutations
T18 863-872 GeneOrGeneProduct denotes mutations
T19 896-901 GeneOrGeneProduct denotes novel
T20 941-949 GeneOrGeneProduct denotes mutation
T21 1011-1017 GeneOrGeneProduct denotes splice
T22 1048-1051 GeneOrGeneProduct denotes all
T23 1052-1056 GeneOrGeneProduct denotes nine
T24 1221-1229 GeneOrGeneProduct denotes mutation
T25 1590-1595 GeneOrGeneProduct denotes novel
T26 1596-1605 GeneOrGeneProduct denotes mutations
T27 1613-1619 GeneOrGeneProduct denotes CYP4V2
T28 1620-1629 GeneOrGeneProduct denotes gene as a
T29 1646-1650 GeneOrGeneProduct denotes high
T30 1651-1658 GeneOrGeneProduct denotes carrier
T31 1659-1668 GeneOrGeneProduct denotes frequency

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 27-38 GeneOrGeneProduct denotes crystalline
T2 63-69 GeneOrGeneProduct denotes CYP4V2
T3 107-113 GeneOrGeneProduct denotes CYP4V2
T4 114-121 GeneOrGeneProduct denotes gene, a
T5 122-127 GeneOrGeneProduct denotes novel
T6 149-164 GeneOrGeneProduct denotes cytochrome P450
T7 245-256 GeneOrGeneProduct denotes crystalline
T8 524-530 GeneOrGeneProduct denotes CYP4V2
T9 583-593 GeneOrGeneProduct denotes polymerase
T10 594-599 GeneOrGeneProduct denotes chain
T11 896-901 GeneOrGeneProduct denotes novel
T12 1590-1595 GeneOrGeneProduct denotes novel
T13 1613-1619 GeneOrGeneProduct denotes CYP4V2
T14 1646-1650 GeneOrGeneProduct denotes high
T15 1651-1658 GeneOrGeneProduct denotes carrier
T16 1659-1668 GeneOrGeneProduct denotes frequency

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 20-48 DiseaseOrPhenotypicFeature denotes Bietti crystalline dystrophy C535440
T2 238-266 DiseaseOrPhenotypicFeature denotes Bietti crystalline dystrophy C535440
T3 268-271 DiseaseOrPhenotypicFeature denotes BCD C535440
T4 357-360 DiseaseOrPhenotypicFeature denotes BCD C535440
T5 451-454 DiseaseOrPhenotypicFeature denotes BCD C535440
T6 1370-1377 DiseaseOrPhenotypicFeature denotes disease D004194
T7 1481-1488 DiseaseOrPhenotypicFeature denotes disease D004194
T8 1537-1544 DiseaseOrPhenotypicFeature denotes disease D004194
T9 1639-1642 DiseaseOrPhenotypicFeature denotes BCD C535440
T10 1830-1837 DiseaseOrPhenotypicFeature denotes disease D004194

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 27-38 GeneOrGeneProduct denotes crystalline
T2 63-69 GeneOrGeneProduct denotes CYP4V2
T3 107-113 GeneOrGeneProduct denotes CYP4V2
T4 149-164 GeneOrGeneProduct denotes cytochrome P450
T5 245-256 GeneOrGeneProduct denotes crystalline
T6 524-530 GeneOrGeneProduct denotes CYP4V2
T7 1613-1619 GeneOrGeneProduct denotes CYP4V2

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 20-48 DiseaseOrPhenotypicFeature denotes Bietti crystalline dystrophy 0008865
T2 238-266 DiseaseOrPhenotypicFeature denotes Bietti crystalline dystrophy 0008865
T3 268-271 DiseaseOrPhenotypicFeature denotes BCD 0008865
T4 357-360 DiseaseOrPhenotypicFeature denotes BCD 0008865
T5 451-454 DiseaseOrPhenotypicFeature denotes BCD 0008865
T6 1639-1642 DiseaseOrPhenotypicFeature denotes BCD 0008865

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 20-48 DiseaseOrPhenotypicFeature denotes Bietti crystalline dystrophy C535440
T2 238-266 DiseaseOrPhenotypicFeature denotes Bietti crystalline dystrophy C535440
T3 268-271 DiseaseOrPhenotypicFeature denotes BCD C535440
T4 357-360 DiseaseOrPhenotypicFeature denotes BCD C535440
T5 451-454 DiseaseOrPhenotypicFeature denotes BCD C535440
T6 1370-1377 DiseaseOrPhenotypicFeature denotes disease D004194
T7 1481-1488 DiseaseOrPhenotypicFeature denotes disease D004194
T8 1537-1544 DiseaseOrPhenotypicFeature denotes disease D004194
T9 1639-1642 DiseaseOrPhenotypicFeature denotes BCD C535440
T10 1830-1837 DiseaseOrPhenotypicFeature denotes disease D004194

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 20-48 DiseaseOrPhenotypicFeature denotes Bietti crystalline dystrophy C535440
T2 238-266 DiseaseOrPhenotypicFeature denotes Bietti crystalline dystrophy C535440
T3 268-271 DiseaseOrPhenotypicFeature denotes BCD C535440
T4 357-360 DiseaseOrPhenotypicFeature denotes BCD C535440
T5 451-454 DiseaseOrPhenotypicFeature denotes BCD C535440
T6 1639-1642 DiseaseOrPhenotypicFeature denotes BCD C535440

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 49-57 OrganismTaxon denotes patients
T2 114-121 OrganismTaxon denotes gene, a
T3 224-232 OrganismTaxon denotes patients
T4 361-369 OrganismTaxon denotes patients
T5 437-445 OrganismTaxon denotes patients
T6 571-579 OrganismTaxon denotes patients
T7 662-670 OrganismTaxon denotes patients
T8 921-929 OrganismTaxon denotes patients
T9 1057-1065 OrganismTaxon denotes patients
T10 1076-1084 OrganismTaxon denotes patients
T11 1154-1162 OrganismTaxon denotes patients
T12 1283-1291 OrganismTaxon denotes patients
T13 1390-1398 OrganismTaxon denotes patients

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 149-164 ChemicalEntity denotes cytochrome P450 http://purl.obolibrary.org/obo/CHEBI_38559
T2 750-761 ChemicalEntity denotes fluorescein D019793|http://purl.obolibrary.org/obo/CHEBI_31624

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T2 750-761 ChemicalEntity denotes fluorescein http://purl.obolibrary.org/obo/CHEBI_31624|D019793
T1 149-164 ChemicalEntity denotes cytochrome P450 http://purl.obolibrary.org/obo/CHEBI_38559
T7 1613-1619 GeneOrGeneProduct denotes CYP4V2
T6 524-530 GeneOrGeneProduct denotes CYP4V2
T5 245-256 GeneOrGeneProduct denotes crystalline
T4 149-164 GeneOrGeneProduct denotes cytochrome P450
T3 107-113 GeneOrGeneProduct denotes CYP4V2
T52511 63-69 GeneOrGeneProduct denotes CYP4V2
T89687 27-38 GeneOrGeneProduct denotes crystalline
T93176 1639-1642 DiseaseOrPhenotypicFeature denotes BCD C535440
T99089 451-454 DiseaseOrPhenotypicFeature denotes BCD C535440
T10136 357-360 DiseaseOrPhenotypicFeature denotes BCD C535440
T67748 268-271 DiseaseOrPhenotypicFeature denotes BCD C535440
T68573 238-266 DiseaseOrPhenotypicFeature denotes Bietti crystalline dystrophy C535440
T28086 20-48 DiseaseOrPhenotypicFeature denotes Bietti crystalline dystrophy C535440
T13 1390-1398 OrganismTaxon denotes patients
T12 1283-1291 OrganismTaxon denotes patients
T11 1154-1162 OrganismTaxon denotes patients
T10 1076-1084 OrganismTaxon denotes patients
T9 1057-1065 OrganismTaxon denotes patients
T8 921-929 OrganismTaxon denotes patients
T70320 662-670 OrganismTaxon denotes patients
T28230 571-579 OrganismTaxon denotes patients
T85880 437-445 OrganismTaxon denotes patients
T20600 361-369 OrganismTaxon denotes patients
T39817 224-232 OrganismTaxon denotes patients
T90818 114-121 OrganismTaxon denotes gene, a
T30486 49-57 OrganismTaxon denotes patients
T95276 1677-1691 SequenceVariant denotes 15-bp deletion
T80432 975-989 SequenceVariant denotes 15-bp deletion
T7895 884-889 SequenceVariant denotes K386T
T55569 874-879 SequenceVariant denotes S482X

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16186368-1#70#74#gene1555 160-164 gene1555 denotes P450
16186368-1#148#176#diseaseC1859486 238-266 diseaseC1859486 denotes Bietti crystalline dystrophy
16186368-1#178#181#diseaseC1859486 268-271 diseaseC1859486 denotes BCD
16186368-12#45#51#gene285440 1613-1619 gene285440 denotes CYP4V2
16186368-12#71#74#diseaseC1859486 1639-1642 diseaseC1859486 denotes BCD
70#74#gene1555148#176#diseaseC1859486 16186368-1#70#74#gene1555 16186368-1#148#176#diseaseC1859486 associated_with P450,Bietti crystalline dystrophy
70#74#gene1555178#181#diseaseC1859486 16186368-1#70#74#gene1555 16186368-1#178#181#diseaseC1859486 associated_with P450,BCD
45#51#gene28544071#74#diseaseC1859486 16186368-12#45#51#gene285440 16186368-12#71#74#diseaseC1859486 associated_with CYP4V2,BCD

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 874-879 ProteinMutation:p|SUB|S|482|X denotes S482X
T2 884-889 ProteinMutation:p|SUB|K|386|T denotes K386T

DisGeNET

Id Subject Object Predicate Lexical cue
T0 107-113 gene:285440 denotes CYP4V2
T1 238-266 disease:C1859486 denotes Bietti crystalline dystrophy
T2 160-164 gene:1555 denotes P450
T3 238-266 disease:C1859486 denotes Bietti crystalline dystrophy
R1 T0 T1 associated_with CYP4V2,Bietti crystalline dystrophy
R2 T2 T3 associated_with P450,Bietti crystalline dystrophy