PubMed:16186368
Annnotations
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 |