> top > docs > PubMed:15111599 > annotations

PubMed:15111599 JSONTXT

Annnotations TAB JSON ListView MergeView

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
718 0-9 GeneOrGeneProduct denotes CRYBA3/A1 NCBIGene:1411
719 55-101 DiseaseOrPhenotypicFeature denotes autosomal dominant congenital nuclear cataract MESH:C565137
720 147-161 DiseaseOrPhenotypicFeature denotes genetic defect MESH:D030342
721 177-204 DiseaseOrPhenotypicFeature denotes congenital nuclear cataract MESH:C565137
722 447-455 DiseaseOrPhenotypicFeature denotes cataract MESH:D002386
723 749-787 DiseaseOrPhenotypicFeature denotes congenital nuclear lactescent cataract MESH:C565137
724 917-926 GeneOrGeneProduct denotes CRYBA3/A1 NCBIGene:1411
725 977-990 SequenceVariant denotes 3-bp deletion c|DEL||3
726 1002-1011 SequenceVariant denotes 279delGAG c|DEL|279|GAG
727 1039-1061 SequenceVariant denotes deletion of glycine-91 p|DEL|91|G
728 1311-1319 SequenceVariant denotes DeltaG91 p|DEL|91|G
729 1332-1341 GeneOrGeneProduct denotes CRYBA3/A1 NCBIGene:1411
730 1364-1421 DiseaseOrPhenotypicFeature denotes autosomal dominant congenital nuclear lactescent cataract MESH:C565137
731 1442-1451 SequenceVariant denotes IVS3+1G/A c|SUB|G|IVS3+1|A
732 1489-1505 DiseaseOrPhenotypicFeature denotes zonular cataract MESH:C535342

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-121 Sentence denotes CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype.
T2 122-130 Sentence denotes PURPOSE:
T3 131-252 Sentence denotes To identify the genetic defect leading to the congenital nuclear cataract affecting a large five-generation Swiss family.
T4 253-261 Sentence denotes METHODS:
T5 262-309 Sentence denotes Family history and clinical data were recorded.
T6 310-385 Sentence denotes The phenotype was documented by both slit lamp and Scheimpflug photography.
T7 386-467 Sentence denotes One cortical lens was evaluated by electron microscopy after cataract extraction.
T8 468-573 Sentence denotes Lenticular phenotyping and genotyping were performed independently with short tandem repeat polymorphism.
T9 574-712 Sentence denotes Linkage analysis was performed, and candidate genes were PCR amplified and screened for mutations on both strands using direct sequencing.
T10 713-721 Sentence denotes RESULTS:
T11 722-801 Sentence denotes Affected individuals had a congenital nuclear lactescent cataract in both eyes.
T12 802-875 Sentence denotes Linkage was observed on chromosome 17 for DNA marker D17S1857 (lod score:
T13 876-895 Sentence denotes 3.44 at theta = 0).
T14 896-1013 Sentence denotes Direct sequencing of CRYBA3/A1, which maps to the vicinity, revealed an in-frame 3-bp deletion in exon 4 (279delGAG).
T15 1014-1218 Sentence denotes This mutation involved a deletion of glycine-91, cosegregated in all affected individuals, and was not observed in unaffected individuals or in 250 normal control subjects from the same ethnic background.
T16 1219-1293 Sentence denotes Electron microscopy showed that cortical lens fiber morphology was normal.
T17 1294-1306 Sentence denotes CONCLUSIONS:
T18 1307-1422 Sentence denotes The DeltaG91 mutation in CRYBA3/A1 is associated with an autosomal dominant congenital nuclear lactescent cataract.
T19 1423-1529 Sentence denotes A splice mutation (IVS3+1G/A) in this gene has been reported in a zonular cataract with sutural opacities.
T20 1530-1612 Sentence denotes These results indicate phenotypic heterogeneity related to mutations in this gene.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 399-403 OrganismTaxon denotes lens NCBItxid:3863|NCBItxid:2762336
T3 884-889 OrganismTaxon denotes theta NCBItxid:1286490
T4 1260-1264 OrganismTaxon denotes lens NCBItxid:3863|NCBItxid:2762336

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 74-84 DiseaseOrPhenotypicFeature denotes congenital 0021140
T2 85-101 DiseaseOrPhenotypicFeature denotes nuclear cataract 0045050
T3 93-101 DiseaseOrPhenotypicFeature denotes cataract 0005129
T4 177-187 DiseaseOrPhenotypicFeature denotes congenital 0021140
T5 188-204 DiseaseOrPhenotypicFeature denotes nuclear cataract 0045050
T6 196-204 DiseaseOrPhenotypicFeature denotes cataract 0005129
T7 447-455 DiseaseOrPhenotypicFeature denotes cataract 0005129
T8 749-759 DiseaseOrPhenotypicFeature denotes congenital 0021140
T9 779-787 DiseaseOrPhenotypicFeature denotes cataract 0005129
T10 1383-1393 DiseaseOrPhenotypicFeature denotes congenital 0021140
T11 1413-1421 DiseaseOrPhenotypicFeature denotes cataract 0005129
T12 1497-1505 DiseaseOrPhenotypicFeature denotes cataract 0005129

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 977-990 SequenceVariant denotes 3-bp deletion
T2 1002-1011 SequenceVariant denotes 279delGAG
T3 1039-1058 SequenceVariant denotes deletion of glycine
T4 1311-1319 SequenceVariant denotes DeltaG91

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-6 GeneOrGeneProduct denotes CRYBA3
T2 7-9 GeneOrGeneProduct denotes A1
T3 15-23 GeneOrGeneProduct denotes mutation
T4 93-101 GeneOrGeneProduct denotes cataract
T5 105-110 GeneOrGeneProduct denotes novel
T6 155-161 GeneOrGeneProduct denotes defect
T7 196-204 GeneOrGeneProduct denotes cataract
T8 217-222 GeneOrGeneProduct denotes large
T9 253-260 GeneOrGeneProduct denotes METHODS
T10 347-351 GeneOrGeneProduct denotes slit
T11 352-356 GeneOrGeneProduct denotes lamp
T12 399-403 GeneOrGeneProduct denotes lens
T13 447-455 GeneOrGeneProduct denotes cataract
T14 662-671 GeneOrGeneProduct denotes mutations
T15 680-687 GeneOrGeneProduct denotes strands
T16 743-748 GeneOrGeneProduct denotes had a
T17 779-787 GeneOrGeneProduct denotes cataract
T18 796-800 GeneOrGeneProduct denotes eyes
T19 837-843 GeneOrGeneProduct denotes 17 for
T20 884-889 GeneOrGeneProduct denotes theta
T21 917-923 GeneOrGeneProduct denotes CRYBA3
T22 924-926 GeneOrGeneProduct denotes A1
T23 934-938 GeneOrGeneProduct denotes maps
T24 1019-1027 GeneOrGeneProduct denotes mutation
T25 1079-1082 GeneOrGeneProduct denotes all
T26 1260-1264 GeneOrGeneProduct denotes lens
T27 1265-1270 GeneOrGeneProduct denotes fiber
T28 1320-1328 GeneOrGeneProduct denotes mutation
T29 1332-1338 GeneOrGeneProduct denotes CRYBA3
T30 1339-1341 GeneOrGeneProduct denotes A1
T31 1413-1421 GeneOrGeneProduct denotes cataract
T32 1425-1431 GeneOrGeneProduct denotes splice
T33 1432-1440 GeneOrGeneProduct denotes mutation
T34 1484-1488 GeneOrGeneProduct denotes in a
T35 1497-1505 GeneOrGeneProduct denotes cataract
T36 1586-1598 GeneOrGeneProduct denotes to mutations

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 0-6 GeneOrGeneProduct denotes CRYBA3
T2 93-101 GeneOrGeneProduct denotes cataract
T3 105-110 GeneOrGeneProduct denotes novel
T4 196-204 GeneOrGeneProduct denotes cataract
T5 217-222 GeneOrGeneProduct denotes large
T6 347-351 GeneOrGeneProduct denotes slit
T7 352-356 GeneOrGeneProduct denotes lamp
T8 447-455 GeneOrGeneProduct denotes cataract
T9 779-787 GeneOrGeneProduct denotes cataract
T10 917-923 GeneOrGeneProduct denotes CRYBA3
T11 1265-1270 GeneOrGeneProduct denotes fiber
T12 1332-1338 GeneOrGeneProduct denotes CRYBA3
T13 1413-1421 GeneOrGeneProduct denotes cataract
T14 1497-1505 GeneOrGeneProduct denotes cataract

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 93-101 DiseaseOrPhenotypicFeature denotes cataract D002386
T2 196-204 DiseaseOrPhenotypicFeature denotes cataract D002386
T3 447-455 DiseaseOrPhenotypicFeature denotes cataract D002386
T4 779-787 DiseaseOrPhenotypicFeature denotes cataract D002386
T5 1413-1421 DiseaseOrPhenotypicFeature denotes cataract D002386
T6 1489-1505 DiseaseOrPhenotypicFeature denotes zonular cataract C535342

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 0-6 GeneOrGeneProduct denotes CRYBA3
T2 347-351 GeneOrGeneProduct denotes slit
T3 352-356 GeneOrGeneProduct denotes lamp
T4 917-923 GeneOrGeneProduct denotes CRYBA3
T5 1332-1338 GeneOrGeneProduct denotes CRYBA3

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 85-101 DiseaseOrPhenotypicFeature denotes nuclear cataract 0045050
T2 155-161 DiseaseOrPhenotypicFeature denotes defect 0008568
T3 188-204 DiseaseOrPhenotypicFeature denotes nuclear cataract 0045050
T4 447-455 DiseaseOrPhenotypicFeature denotes cataract 0005129
T5 779-787 DiseaseOrPhenotypicFeature denotes cataract 0005129
T6 1413-1421 DiseaseOrPhenotypicFeature denotes cataract 0005129
T7 1497-1505 DiseaseOrPhenotypicFeature denotes cataract 0005129

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 55-101 DiseaseOrPhenotypicFeature denotes autosomal dominant congenital nuclear cataract DISEASE
T2 147-161 DiseaseOrPhenotypicFeature denotes genetic defect DISEASE
T3 196-204 DiseaseOrPhenotypicFeature denotes cataract D002386
T4 447-455 DiseaseOrPhenotypicFeature denotes cataract D002386
T5 749-787 DiseaseOrPhenotypicFeature denotes congenital nuclear lactescent cataract DISEASE
T6 1364-1421 DiseaseOrPhenotypicFeature denotes autosomal dominant congenital nuclear lactescent cataract DISEASE
T7 1489-1505 DiseaseOrPhenotypicFeature denotes zonular cataract C535342

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 55-101 DiseaseOrPhenotypicFeature denotes autosomal dominant congenital nuclear cataract DISEASE
T2 147-161 DiseaseOrPhenotypicFeature denotes genetic defect DISEASE
T3 196-204 DiseaseOrPhenotypicFeature denotes cataract D002386
T4 447-455 DiseaseOrPhenotypicFeature denotes cataract D002386
T5 749-787 DiseaseOrPhenotypicFeature denotes congenital nuclear lactescent cataract DISEASE
T6 1364-1421 DiseaseOrPhenotypicFeature denotes autosomal dominant congenital nuclear lactescent cataract DISEASE
T7 1489-1505 DiseaseOrPhenotypicFeature denotes zonular cataract C535342

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 844-854 ChemicalEntity denotes DNA marker D005819
T2 1051-1058 ChemicalEntity denotes glycine http://purl.obolibrary.org/obo/CHEBI_57305|http://purl.obolibrary.org/obo/CHEBI_29947|http://purl.obolibrary.org/obo/CHEBI_15428

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 399-403 OrganismTaxon denotes lens
T2 884-889 OrganismTaxon denotes theta
T3 1260-1264 OrganismTaxon denotes lens

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T2 1051-1058 ChemicalEntity denotes glycine http://purl.obolibrary.org/obo/CHEBI_15428|http://purl.obolibrary.org/obo/CHEBI_29947|http://purl.obolibrary.org/obo/CHEBI_57305
T1 844-854 ChemicalEntity denotes DNA marker D005819
T5 1332-1338 GeneOrGeneProduct denotes CRYBA3
T4 917-923 GeneOrGeneProduct denotes CRYBA3
T3 352-356 GeneOrGeneProduct denotes lamp
T83391 347-351 GeneOrGeneProduct denotes slit
T98731 0-6 GeneOrGeneProduct denotes CRYBA3
T7 1489-1505 DiseaseOrPhenotypicFeature denotes zonular cataract C535342
T6 1364-1421 DiseaseOrPhenotypicFeature denotes autosomal dominant congenital nuclear lactescent cataract DISEASE
T53596 749-787 DiseaseOrPhenotypicFeature denotes congenital nuclear lactescent cataract DISEASE
T22276 447-455 DiseaseOrPhenotypicFeature denotes cataract D002386
T50349 196-204 DiseaseOrPhenotypicFeature denotes cataract D002386
T24409 147-161 DiseaseOrPhenotypicFeature denotes genetic defect DISEASE
T74043 55-101 DiseaseOrPhenotypicFeature denotes autosomal dominant congenital nuclear cataract DISEASE
T24416 1260-1264 OrganismTaxon denotes lens
T96115 884-889 OrganismTaxon denotes theta
T33760 399-403 OrganismTaxon denotes lens
T33345 1311-1319 SequenceVariant denotes DeltaG91
T38790 1039-1058 SequenceVariant denotes deletion of glycine
T34026 1002-1011 SequenceVariant denotes 279delGAG
T59358 977-990 SequenceVariant denotes 3-bp deletion

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1002-1011 DNAMutation:|DEL|279|GAG denotes 279delGAG
T2 1311-1319 ProteinMutation:p|DEL|91|G denotes DeltaG91
T3 1442-1451 DNAMutation:c|SUB|G|IVS3+1|A denotes IVS3+1G/A