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PubMed:18672102 JSONTXT

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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T2 71-181 Sentence denotes Recent studies have reported germline mutations in GATA4 gene in some types of congenital heart disease (CHD).
T1 0-70 Sentence denotes GATA4 mutations in 486 Chinese patients with congenital heart disease.
T3 182-331 Sentence denotes However, the prevalence of GATA4 mutations in CHD and the correlation between the GATA4 genotype and CHD phenotype have not been extensively studied.
T4 332-559 Sentence denotes We screened germline mutations in the coding exons and the flanking intron sequences of the GATA4 gene in 486 CHD patients by denaturing high-performance liquid chromatography (DHPLC), and confirmed the mutations by sequencing.
T5 560-922 Sentence denotes Nine distinct mutations including one small deletion mutation (46delS), two small insertion mutations (118-119insA and 125-126insAA), and six non-synonymous mutations (A6V, P163S, E359K, P407Q, S429T and A442V) were identified in 12 of the 486 patients (nine with ventricular septal defect, two with Tetralogy of Fallot, and one with endocardial cushion defect).
T6 923-1046 Sentence denotes Of them, two patients carrying E359K mutation were from two generations in one family with ventricular septal defect (VSD).
T7 1047-1186 Sentence denotes Interestingly, a nucleotide insertion of c.1146+25insA in exon 6 was detected in five VSD patients, but not in 486 normal healthy controls.
T8 1187-1351 Sentence denotes Our findings are useful in understanding the prevalence of GATA4 mutations and the correlation between the GATA4 genotype and the CHD phenotype in Chinese patients.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
5344 0-5 GeneOrGeneProduct denotes GATA4 NCBIGene:2626
5345 31-39 OrganismTaxon denotes patients NCBITaxon:9606
5346 45-69 DiseaseOrPhenotypicFeature denotes congenital heart disease MESH:D006331
5347 122-127 GeneOrGeneProduct denotes GATA4 NCBIGene:2626
5348 150-174 DiseaseOrPhenotypicFeature denotes congenital heart disease MESH:D006331
5349 176-179 DiseaseOrPhenotypicFeature denotes CHD MESH:D006331
5350 209-214 GeneOrGeneProduct denotes GATA4 NCBIGene:2626
5351 228-231 DiseaseOrPhenotypicFeature denotes CHD MESH:D006331
5352 264-269 GeneOrGeneProduct denotes GATA4 NCBIGene:2626
5353 283-286 DiseaseOrPhenotypicFeature denotes CHD MESH:D006331
5354 424-429 GeneOrGeneProduct denotes GATA4 NCBIGene:2626
5355 442-445 DiseaseOrPhenotypicFeature denotes CHD MESH:D006331
5356 446-454 OrganismTaxon denotes patients NCBITaxon:9606
5357 623-629 SequenceVariant denotes 46delS |DEL|46|S
5358 663-674 SequenceVariant denotes 118-119insA |INS|118_119|A
5359 679-691 SequenceVariant denotes 125-126insAA |INS|125_126|AA
5360 728-731 SequenceVariant denotes A6V DBSNP:rs199922907
5361 733-738 SequenceVariant denotes P163S DBSNP:rs387906769
5362 740-745 SequenceVariant denotes E359K DBSNP:rs368489876
5363 747-752 SequenceVariant denotes P407Q DBSNP:rs115099192
5364 754-759 SequenceVariant denotes S429T p|SUB|S|429|T
5365 764-769 SequenceVariant denotes A442V DBSNP:rs146017816
5366 804-812 OrganismTaxon denotes patients NCBITaxon:9606
5367 824-849 DiseaseOrPhenotypicFeature denotes ventricular septal defect MESH:D006345
5368 860-879 DiseaseOrPhenotypicFeature denotes Tetralogy of Fallot MESH:D013771
5369 894-920 DiseaseOrPhenotypicFeature denotes endocardial cushion defect MESH:D004694
5370 936-944 OrganismTaxon denotes patients NCBITaxon:9606
5371 954-959 SequenceVariant denotes E359K DBSNP:rs368489876
5372 1014-1039 DiseaseOrPhenotypicFeature denotes ventricular septal defect MESH:D006345
5373 1041-1044 DiseaseOrPhenotypicFeature denotes VSD MESH:D006345
5374 1088-1101 SequenceVariant denotes c.1146+25insA c|INS|1146+25|A
5375 1133-1136 DiseaseOrPhenotypicFeature denotes VSD MESH:D006345
5376 1137-1145 OrganismTaxon denotes patients NCBITaxon:9606
5377 1246-1251 GeneOrGeneProduct denotes GATA4 NCBIGene:2626
5378 1294-1299 GeneOrGeneProduct denotes GATA4 NCBIGene:2626
5379 1317-1320 DiseaseOrPhenotypicFeature denotes CHD MESH:D006331
5380 1342-1350 OrganismTaxon denotes patients NCBITaxon:9606

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 45-69 DiseaseOrPhenotypicFeature denotes congenital heart disease 0005453
T2 45-55 DiseaseOrPhenotypicFeature denotes congenital 0021140
T3 56-69 DiseaseOrPhenotypicFeature denotes heart disease 0005267
T4 150-174 DiseaseOrPhenotypicFeature denotes congenital heart disease 0005453
T5 150-160 DiseaseOrPhenotypicFeature denotes congenital 0021140
T6 161-174 DiseaseOrPhenotypicFeature denotes heart disease 0005267
T7 824-849 DiseaseOrPhenotypicFeature denotes ventricular septal defect 0002070
T8 860-879 DiseaseOrPhenotypicFeature denotes Tetralogy of Fallot 0008542
T9 1014-1039 DiseaseOrPhenotypicFeature denotes ventricular septal defect 0002070

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 623-629 SequenceVariant denotes 46delS
T2 663-674 SequenceVariant denotes 118-119insA
T3 679-691 SequenceVariant denotes 125-126insAA
T4 728-731 SequenceVariant denotes A6V
T5 733-738 SequenceVariant denotes P163S
T6 740-745 SequenceVariant denotes E359K
T7 747-752 SequenceVariant denotes P407Q
T8 754-759 SequenceVariant denotes S429T
T9 764-769 SequenceVariant denotes A442V
T10 954-959 SequenceVariant denotes E359K
T11 1088-1101 SequenceVariant denotes c.1146+25insA

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-5 GeneOrGeneProduct denotes GATA4
T2 6-15 GeneOrGeneProduct denotes mutations
T3 56-61 GeneOrGeneProduct denotes heart
T4 109-118 GeneOrGeneProduct denotes mutations
T5 122-127 GeneOrGeneProduct denotes GATA4
T6 161-166 GeneOrGeneProduct denotes heart
T7 209-214 GeneOrGeneProduct denotes GATA4
T8 215-224 GeneOrGeneProduct denotes mutations
T9 264-269 GeneOrGeneProduct denotes GATA4
T10 311-322 GeneOrGeneProduct denotes extensively
T11 353-362 GeneOrGeneProduct denotes mutations
T12 424-429 GeneOrGeneProduct denotes GATA4
T13 469-473 GeneOrGeneProduct denotes high
T14 535-544 GeneOrGeneProduct denotes mutations
T15 560-564 GeneOrGeneProduct denotes Nine
T16 574-583 GeneOrGeneProduct denotes mutations
T17 598-603 GeneOrGeneProduct denotes small
T18 613-621 GeneOrGeneProduct denotes mutation
T19 636-641 GeneOrGeneProduct denotes small
T20 652-661 GeneOrGeneProduct denotes mutations
T21 717-726 GeneOrGeneProduct denotes mutations
T22 787-792 GeneOrGeneProduct denotes in 12
T23 814-818 GeneOrGeneProduct denotes nine
T24 843-849 GeneOrGeneProduct denotes defect
T25 914-920 GeneOrGeneProduct denotes defect
T26 926-930 GeneOrGeneProduct denotes them
T27 960-968 GeneOrGeneProduct denotes mutation
T28 1033-1039 GeneOrGeneProduct denotes defect
T29 1191-1199 GeneOrGeneProduct denotes findings
T30 1246-1251 GeneOrGeneProduct denotes GATA4
T31 1252-1261 GeneOrGeneProduct denotes mutations
T32 1294-1299 GeneOrGeneProduct denotes GATA4

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 0-5 GeneOrGeneProduct denotes GATA4
T2 56-61 GeneOrGeneProduct denotes heart
T3 122-127 GeneOrGeneProduct denotes GATA4
T4 161-166 GeneOrGeneProduct denotes heart
T5 209-214 GeneOrGeneProduct denotes GATA4
T6 264-269 GeneOrGeneProduct denotes GATA4
T7 424-429 GeneOrGeneProduct denotes GATA4
T8 469-473 GeneOrGeneProduct denotes high
T9 598-603 GeneOrGeneProduct denotes small
T10 636-641 GeneOrGeneProduct denotes small
T11 1246-1251 GeneOrGeneProduct denotes GATA4
T12 1294-1299 GeneOrGeneProduct denotes GATA4

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 45-69 DiseaseOrPhenotypicFeature denotes congenital heart disease D006330
T2 150-174 DiseaseOrPhenotypicFeature denotes congenital heart disease D006330
T3 176-179 DiseaseOrPhenotypicFeature denotes CHD D006330
T4 228-231 DiseaseOrPhenotypicFeature denotes CHD D006330
T5 283-286 DiseaseOrPhenotypicFeature denotes CHD D006330
T6 442-445 DiseaseOrPhenotypicFeature denotes CHD D006330
T7 824-849 DiseaseOrPhenotypicFeature denotes ventricular septal defect D006345
T8 860-879 DiseaseOrPhenotypicFeature denotes Tetralogy of Fallot D013771
T9 894-920 DiseaseOrPhenotypicFeature denotes endocardial cushion defect D004694
T10 1014-1039 DiseaseOrPhenotypicFeature denotes ventricular septal defect D006345
T11 1041-1044 DiseaseOrPhenotypicFeature denotes VSD D006345
T12 1133-1136 DiseaseOrPhenotypicFeature denotes VSD D006345
T13 1317-1320 DiseaseOrPhenotypicFeature denotes CHD D006330

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 0-5 GeneOrGeneProduct denotes GATA4
T2 122-127 GeneOrGeneProduct denotes GATA4
T3 209-214 GeneOrGeneProduct denotes GATA4
T4 264-269 GeneOrGeneProduct denotes GATA4
T5 424-429 GeneOrGeneProduct denotes GATA4
T6 1246-1251 GeneOrGeneProduct denotes GATA4
T7 1294-1299 GeneOrGeneProduct denotes GATA4

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 45-69 DiseaseOrPhenotypicFeature denotes congenital heart disease 0005453
T2 150-174 DiseaseOrPhenotypicFeature denotes congenital heart disease 0005453
T3 176-179 DiseaseOrPhenotypicFeature denotes CHD 0005010|0005453
T5 228-231 DiseaseOrPhenotypicFeature denotes CHD 0005010|0005453
T7 283-286 DiseaseOrPhenotypicFeature denotes CHD 0005010|0005453
T9 442-445 DiseaseOrPhenotypicFeature denotes CHD 0005010|0005453
T11 824-849 DiseaseOrPhenotypicFeature denotes ventricular septal defect 0002070
T12 860-879 DiseaseOrPhenotypicFeature denotes Tetralogy of Fallot 0008542
T13 894-920 DiseaseOrPhenotypicFeature denotes endocardial cushion defect 0020290|0011649
T15 1014-1039 DiseaseOrPhenotypicFeature denotes ventricular septal defect 0002070
T16 1041-1044 DiseaseOrPhenotypicFeature denotes VSD 0002070
T17 1133-1136 DiseaseOrPhenotypicFeature denotes VSD 0002070
T18 1317-1320 DiseaseOrPhenotypicFeature denotes CHD 0005010|0005453

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 45-69 DiseaseOrPhenotypicFeature denotes congenital heart disease D006330
T2 150-174 DiseaseOrPhenotypicFeature denotes congenital heart disease D006330
T3 176-179 DiseaseOrPhenotypicFeature denotes CHD D006330
T4 228-231 DiseaseOrPhenotypicFeature denotes CHD D006330
T5 283-286 DiseaseOrPhenotypicFeature denotes CHD D006330
T6 442-445 DiseaseOrPhenotypicFeature denotes CHD D006330
T7 824-849 DiseaseOrPhenotypicFeature denotes ventricular septal defect D006345
T8 860-879 DiseaseOrPhenotypicFeature denotes Tetralogy of Fallot D013771
T9 894-920 DiseaseOrPhenotypicFeature denotes endocardial cushion defect D004694
T10 1014-1039 DiseaseOrPhenotypicFeature denotes ventricular septal defect D006345
T11 1041-1044 DiseaseOrPhenotypicFeature denotes VSD D006345
T12 1133-1136 DiseaseOrPhenotypicFeature denotes VSD D006345
T13 1317-1320 DiseaseOrPhenotypicFeature denotes CHD D006330

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 45-69 DiseaseOrPhenotypicFeature denotes congenital heart disease D006330
T2 150-174 DiseaseOrPhenotypicFeature denotes congenital heart disease D006330
T3 176-179 DiseaseOrPhenotypicFeature denotes CHD D006330
T4 228-231 DiseaseOrPhenotypicFeature denotes CHD D006330
T5 283-286 DiseaseOrPhenotypicFeature denotes CHD D006330
T6 442-445 DiseaseOrPhenotypicFeature denotes CHD D006330
T7 824-849 DiseaseOrPhenotypicFeature denotes ventricular septal defect D006345
T8 860-879 DiseaseOrPhenotypicFeature denotes Tetralogy of Fallot D013771
T9 894-920 DiseaseOrPhenotypicFeature denotes endocardial cushion defect D004694
T10 1014-1039 DiseaseOrPhenotypicFeature denotes ventricular septal defect D006345
T11 1041-1044 DiseaseOrPhenotypicFeature denotes VSD D006345
T12 1133-1136 DiseaseOrPhenotypicFeature denotes VSD D006345
T13 1317-1320 DiseaseOrPhenotypicFeature denotes CHD D006330

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 31-39 OrganismTaxon denotes patients
T2 446-454 OrganismTaxon denotes patients
T3 804-812 OrganismTaxon denotes patients
T4 936-944 OrganismTaxon denotes patients
T5 1137-1145 OrganismTaxon denotes patients
T6 1342-1350 OrganismTaxon denotes patients

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label
T7 1294-1299 GeneOrGeneProduct denotes GATA4
T6 1246-1251 GeneOrGeneProduct denotes GATA4
T5 424-429 GeneOrGeneProduct denotes GATA4
T4 264-269 GeneOrGeneProduct denotes GATA4
T3 209-214 GeneOrGeneProduct denotes GATA4
T2 122-127 GeneOrGeneProduct denotes GATA4
T1 0-5 GeneOrGeneProduct denotes GATA4
T13 1317-1320 DiseaseOrPhenotypicFeature denotes CHD D006330
T12 1133-1136 DiseaseOrPhenotypicFeature denotes VSD D006345
T11 1041-1044 DiseaseOrPhenotypicFeature denotes VSD D006345
T10 1014-1039 DiseaseOrPhenotypicFeature denotes ventricular septal defect D006345
T9 894-920 DiseaseOrPhenotypicFeature denotes endocardial cushion defect D004694
T8 860-879 DiseaseOrPhenotypicFeature denotes Tetralogy of Fallot D013771
T76541 824-849 DiseaseOrPhenotypicFeature denotes ventricular septal defect D006345
T20695 442-445 DiseaseOrPhenotypicFeature denotes CHD D006330
T16585 283-286 DiseaseOrPhenotypicFeature denotes CHD D006330
T13053 228-231 DiseaseOrPhenotypicFeature denotes CHD D006330
T33155 176-179 DiseaseOrPhenotypicFeature denotes CHD D006330
T51442 150-174 DiseaseOrPhenotypicFeature denotes congenital heart disease D006330
T21435 45-69 DiseaseOrPhenotypicFeature denotes congenital heart disease D006330
T53205 1342-1350 OrganismTaxon denotes patients
T8546 1137-1145 OrganismTaxon denotes patients
T87944 936-944 OrganismTaxon denotes patients
T50826 804-812 OrganismTaxon denotes patients
T39595 446-454 OrganismTaxon denotes patients
T18568 31-39 OrganismTaxon denotes patients
T88958 1088-1101 SequenceVariant denotes c.1146+25insA
T98297 954-959 SequenceVariant denotes E359K
T51329 764-769 SequenceVariant denotes A442V
T35165 754-759 SequenceVariant denotes S429T
T13039 747-752 SequenceVariant denotes P407Q
T62038 740-745 SequenceVariant denotes E359K
T80103 733-738 SequenceVariant denotes P163S
T91894 728-731 SequenceVariant denotes A6V
T38542 679-691 SequenceVariant denotes 125-126insAA
T2389 663-674 SequenceVariant denotes 118-119insA
T9319 623-629 SequenceVariant denotes 46delS

DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-5 gene:2626 denotes GATA4
T1 45-69 disease:C0152021 denotes congenital heart disease
T2 122-127 gene:2626 denotes GATA4
T3 176-179 disease:C0010068 denotes CHD
T4 122-127 gene:2626 denotes GATA4
T5 150-174 disease:C0152021 denotes congenital heart disease
T6 209-214 gene:2626 denotes GATA4
T7 228-231 disease:C0010068 denotes CHD
T8 264-269 gene:2626 denotes GATA4
T9 283-286 disease:C0010068 denotes CHD
T10 264-269 gene:2626 denotes GATA4
T11 228-231 disease:C0010068 denotes CHD
T12 209-214 gene:2626 denotes GATA4
T13 283-286 disease:C0010068 denotes CHD
T14 1246-1251 gene:2626 denotes GATA4
T15 1317-1320 disease:C0010068 denotes CHD
T16 1294-1299 gene:2626 denotes GATA4
T17 1317-1320 disease:C0010068 denotes CHD
R1 T0 T1 associated_with GATA4,congenital heart disease
R2 T2 T3 associated_with GATA4,CHD
R3 T4 T5 associated_with GATA4,congenital heart disease
R4 T6 T7 associated_with GATA4,CHD
R5 T8 T9 associated_with GATA4,CHD
R6 T10 T11 associated_with GATA4,CHD
R7 T12 T13 associated_with GATA4,CHD
R8 T14 T15 associated_with GATA4,CHD
R9 T16 T17 associated_with GATA4,CHD

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 623-629 DNAMutation:|DEL|46|S denotes 46delS
T2 663-674 DNAMutation:|INS|118_119|A denotes 118-119insA
T3 679-691 DNAMutation:|INS|125_126|AA denotes 125-126insAA
T4 728-731 ProteinMutation:p|SUB|A|6|V denotes A6V
T5 733-738 ProteinMutation:p|SUB|P|163|S denotes P163S
T6 740-745 ProteinMutation:p|SUB|E|359|K denotes E359K
T7 747-752 ProteinMutation:p|SUB|P|407|Q denotes P407Q
T8 754-759 ProteinMutation:p|SUB|S|429|T denotes S429T
T9 764-769 ProteinMutation:p|SUB|A|442|V denotes A442V
T10 954-959 ProteinMutation:p|SUB|E|359|K denotes E359K
T11 1088-1101 DNAMutation:c|INS|1146+25|A denotes c.1146+25insA