PubMed:16541406
Annnotations
LitCoin-sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-151 | Sentence | denotes | Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC). |
| T2 | 152-323 | Sentence | denotes | A relatively high frequency of germ-line genomic rearrangements in MLH1 and MSH2 has been reported among Lynch Syndrome (HNPCC) patients from different ethnic populations. |
| T3 | 324-471 | Sentence | denotes | To investigate the underlying molecular mechanisms, we characterized the DNA breakpoints of 11 germ-line deletions, six for MLH1 and five for MSH2. |
| T4 | 472-528 | Sentence | denotes | Distinct deletion patterns were found for the two genes. |
| T5 | 529-656 | Sentence | denotes | The five cases of MSH2 deletions result exclusively from intragenic unequal recombination mediated by repetitive Alu sequences. |
| T6 | 657-788 | Sentence | denotes | In contrast, five out of the six MLH1 deletions are due to recombinations involving sequences of no significant homology (P=0.015). |
| T7 | 789-1037 | Sentence | denotes | A detailed analysis of the DNA breakpoints in the two genes, previously characterized by other groups, validated the observation that Alu-mediated unequal recombination is the main type of deletion in MSH2 (n=34), but not in MLH1 (n=21) (P<0.0001). |
| T8 | 1038-1213 | Sentence | denotes | Plotting the distribution of known DNA breakpoints among the introns of the two genes showed that, the highest breakpoint density is co-localized with the highest Alu density. |
| T9 | 1214-1392 | Sentence | denotes | Our study suggests that Alu is a promoting factor for the genomic recombinations in both MLH1 and MSH2, and the local Alu density may be involved in shaping the deletion pattern. |
LitCoin-entities
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| 2819 | 44-48 | GeneOrGeneProduct | denotes | MLH1 | NCBIGene:4292 |
| 2820 | 53-57 | GeneOrGeneProduct | denotes | MSH2 | NCBIGene:4436 |
| 2821 | 128-142 | DiseaseOrPhenotypicFeature | denotes | Lynch syndrome | MESH:D003123 |
| 2822 | 144-149 | DiseaseOrPhenotypicFeature | denotes | HNPCC | MESH:D003123 |
| 2823 | 219-223 | GeneOrGeneProduct | denotes | MLH1 | NCBIGene:4292 |
| 2824 | 228-232 | GeneOrGeneProduct | denotes | MSH2 | NCBIGene:4436 |
| 2825 | 257-271 | DiseaseOrPhenotypicFeature | denotes | Lynch Syndrome | MESH:D003123 |
| 2826 | 273-278 | DiseaseOrPhenotypicFeature | denotes | HNPCC | MESH:D003123 |
| 2827 | 280-288 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 2828 | 448-452 | GeneOrGeneProduct | denotes | MLH1 | NCBIGene:4292 |
| 2829 | 466-470 | GeneOrGeneProduct | denotes | MSH2 | NCBIGene:4436 |
| 2830 | 547-551 | GeneOrGeneProduct | denotes | MSH2 | NCBIGene:4436 |
| 2831 | 690-694 | GeneOrGeneProduct | denotes | MLH1 | NCBIGene:4292 |
| 2832 | 990-994 | GeneOrGeneProduct | denotes | MSH2 | NCBIGene:4436 |
| 2833 | 1014-1018 | GeneOrGeneProduct | denotes | MLH1 | NCBIGene:4292 |
| 2834 | 1303-1307 | GeneOrGeneProduct | denotes | MLH1 | NCBIGene:4292 |
| 2835 | 1312-1316 | GeneOrGeneProduct | denotes | MSH2 | NCBIGene:4436 |
LitCoin_Mondo
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 128-142 | DiseaseOrPhenotypicFeature | denotes | Lynch syndrome | 0005835 |
| T2 | 257-271 | DiseaseOrPhenotypicFeature | denotes | Lynch Syndrome | 0005835 |
LitCoin-GeneOrGeneProduct-v2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 44-48 | GeneOrGeneProduct | denotes | MLH1 |
| T2 | 53-57 | GeneOrGeneProduct | denotes | MSH2 |
| T3 | 134-142 | GeneOrGeneProduct | denotes | syndrome |
| T4 | 144-149 | GeneOrGeneProduct | denotes | HNPCC |
| T5 | 165-169 | GeneOrGeneProduct | denotes | high |
| T6 | 170-179 | GeneOrGeneProduct | denotes | frequency |
| T7 | 219-223 | GeneOrGeneProduct | denotes | MLH1 |
| T8 | 228-232 | GeneOrGeneProduct | denotes | MSH2 |
| T9 | 263-271 | GeneOrGeneProduct | denotes | Syndrome |
| T10 | 273-278 | GeneOrGeneProduct | denotes | HNPCC |
| T11 | 448-452 | GeneOrGeneProduct | denotes | MLH1 |
| T12 | 466-470 | GeneOrGeneProduct | denotes | MSH2 |
| T13 | 547-551 | GeneOrGeneProduct | denotes | MSH2 |
| T14 | 605-618 | GeneOrGeneProduct | denotes | recombination |
| T15 | 690-694 | GeneOrGeneProduct | denotes | MLH1 |
| T16 | 716-730 | GeneOrGeneProduct | denotes | recombinations |
| T17 | 878-883 | GeneOrGeneProduct | denotes | other |
| T18 | 944-957 | GeneOrGeneProduct | denotes | recombination |
| T19 | 990-994 | GeneOrGeneProduct | denotes | MSH2 |
| T20 | 1014-1018 | GeneOrGeneProduct | denotes | MLH1 |
| T21 | 1257-1263 | GeneOrGeneProduct | denotes | factor |
| T22 | 1280-1294 | GeneOrGeneProduct | denotes | recombinations |
| T23 | 1303-1307 | GeneOrGeneProduct | denotes | MLH1 |
| T24 | 1312-1316 | GeneOrGeneProduct | denotes | MSH2 |
LitCoin-GeneOrGeneProduct-v0
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 21-25 | GeneOrGeneProduct | denotes | germ |
| T2 | 26-30 | GeneOrGeneProduct | denotes | line |
| T3 | 44-48 | GeneOrGeneProduct | denotes | MLH1 |
| T4 | 53-57 | GeneOrGeneProduct | denotes | MSH2 |
| T5 | 134-142 | GeneOrGeneProduct | denotes | syndrome |
| T6 | 144-149 | GeneOrGeneProduct | denotes | HNPCC |
| T7 | 165-169 | GeneOrGeneProduct | denotes | high |
| T8 | 170-179 | GeneOrGeneProduct | denotes | frequency |
| T9 | 183-187 | GeneOrGeneProduct | denotes | germ |
| T10 | 188-192 | GeneOrGeneProduct | denotes | line |
| T11 | 219-223 | GeneOrGeneProduct | denotes | MLH1 |
| T12 | 228-232 | GeneOrGeneProduct | denotes | MSH2 |
| T13 | 263-271 | GeneOrGeneProduct | denotes | Syndrome |
| T14 | 273-278 | GeneOrGeneProduct | denotes | HNPCC |
| T15 | 419-423 | GeneOrGeneProduct | denotes | germ |
| T16 | 424-428 | GeneOrGeneProduct | denotes | line |
| T17 | 448-452 | GeneOrGeneProduct | denotes | MLH1 |
| T18 | 466-470 | GeneOrGeneProduct | denotes | MSH2 |
| T19 | 538-543 | GeneOrGeneProduct | denotes | cases |
| T20 | 547-551 | GeneOrGeneProduct | denotes | MSH2 |
| T21 | 605-618 | GeneOrGeneProduct | denotes | recombination |
| T22 | 619-627 | GeneOrGeneProduct | denotes | mediated |
| T23 | 660-668 | GeneOrGeneProduct | denotes | contrast |
| T24 | 675-678 | GeneOrGeneProduct | denotes | out |
| T25 | 690-694 | GeneOrGeneProduct | denotes | MLH1 |
| T26 | 716-730 | GeneOrGeneProduct | denotes | recombinations |
| T27 | 769-777 | GeneOrGeneProduct | denotes | homology |
| T28 | 878-883 | GeneOrGeneProduct | denotes | other |
| T29 | 927-935 | GeneOrGeneProduct | denotes | mediated |
| T30 | 944-957 | GeneOrGeneProduct | denotes | recombination |
| T31 | 965-969 | GeneOrGeneProduct | denotes | main |
| T32 | 990-994 | GeneOrGeneProduct | denotes | MSH2 |
| T33 | 1014-1018 | GeneOrGeneProduct | denotes | MLH1 |
| T34 | 1020-1024 | GeneOrGeneProduct | denotes | n=21 |
| T35 | 1257-1263 | GeneOrGeneProduct | denotes | factor |
| T36 | 1280-1294 | GeneOrGeneProduct | denotes | recombinations |
| T37 | 1303-1307 | GeneOrGeneProduct | denotes | MLH1 |
| T38 | 1312-1316 | GeneOrGeneProduct | denotes | MSH2 |
LitCoin-Disease-MeSH
| Id | Subject | Object | Predicate | Lexical cue | originalLabel |
|---|---|---|---|---|---|
| T1 | 128-142 | DiseaseOrPhenotypicFeature | denotes | Lynch syndrome | D003123 |
| T2 | 144-149 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T3 | 257-271 | DiseaseOrPhenotypicFeature | denotes | Lynch Syndrome | D003123 |
| T4 | 273-278 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
LitCoin-GeneOrGeneProduct-v3
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 44-48 | GeneOrGeneProduct | denotes | MLH1 |
| T2 | 53-57 | GeneOrGeneProduct | denotes | MSH2 |
| T3 | 219-223 | GeneOrGeneProduct | denotes | MLH1 |
| T4 | 228-232 | GeneOrGeneProduct | denotes | MSH2 |
| T5 | 448-452 | GeneOrGeneProduct | denotes | MLH1 |
| T6 | 466-470 | GeneOrGeneProduct | denotes | MSH2 |
| T7 | 547-551 | GeneOrGeneProduct | denotes | MSH2 |
| T8 | 690-694 | GeneOrGeneProduct | denotes | MLH1 |
| T9 | 990-994 | GeneOrGeneProduct | denotes | MSH2 |
| T10 | 1014-1018 | GeneOrGeneProduct | denotes | MLH1 |
| T11 | 1303-1307 | GeneOrGeneProduct | denotes | MLH1 |
| T12 | 1312-1316 | GeneOrGeneProduct | denotes | MSH2 |
LitCoin_Mondo_095
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 128-142 | DiseaseOrPhenotypicFeature | denotes | Lynch syndrome | 0005835 |
| T2 | 144-149 | DiseaseOrPhenotypicFeature | denotes | HNPCC | 0018630 |
| T3 | 257-271 | DiseaseOrPhenotypicFeature | denotes | Lynch Syndrome | 0005835 |
| T4 | 273-278 | DiseaseOrPhenotypicFeature | denotes | HNPCC | 0018630 |
LitCoin-MeSH-Disease-2
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 128-142 | DiseaseOrPhenotypicFeature | denotes | Lynch syndrome | D003123 |
| T2 | 144-149 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T3 | 257-271 | DiseaseOrPhenotypicFeature | denotes | Lynch Syndrome | D003123 |
| T4 | 273-278 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
LitCoin-MONDO_bioort2019
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 128-142 | DiseaseOrPhenotypicFeature | denotes | Lynch syndrome | D003123 |
| T2 | 144-149 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T3 | 257-271 | DiseaseOrPhenotypicFeature | denotes | Lynch Syndrome | D003123 |
| T4 | 273-278 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
LitCoin-NCBITaxon-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 280-288 | OrganismTaxon | denotes | patients |
LitCoin-training-merged
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T12 | 1312-1316 | GeneOrGeneProduct | denotes | MSH2 | |
| T11 | 1303-1307 | GeneOrGeneProduct | denotes | MLH1 | |
| T10 | 1014-1018 | GeneOrGeneProduct | denotes | MLH1 | |
| T9 | 990-994 | GeneOrGeneProduct | denotes | MSH2 | |
| T8 | 690-694 | GeneOrGeneProduct | denotes | MLH1 | |
| T7 | 547-551 | GeneOrGeneProduct | denotes | MSH2 | |
| T6 | 466-470 | GeneOrGeneProduct | denotes | MSH2 | |
| T5 | 448-452 | GeneOrGeneProduct | denotes | MLH1 | |
| T4 | 228-232 | GeneOrGeneProduct | denotes | MSH2 | |
| T3 | 219-223 | GeneOrGeneProduct | denotes | MLH1 | |
| T2 | 53-57 | GeneOrGeneProduct | denotes | MSH2 | |
| T1 | 44-48 | GeneOrGeneProduct | denotes | MLH1 | |
| T78466 | 273-278 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T52266 | 257-271 | DiseaseOrPhenotypicFeature | denotes | Lynch Syndrome | D003123 |
| T50621 | 144-149 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T52589 | 128-142 | DiseaseOrPhenotypicFeature | denotes | Lynch syndrome | D003123 |
| T18884 | 280-288 | OrganismTaxon | denotes | patients |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 16541406-0#44#48#gene4292 | 44-48 | gene4292 | denotes | MLH1 |
| 16541406-0#53#57#gene4436 | 53-57 | gene4436 | denotes | MSH2 |
| 16541406-0#128#142#diseaseC1333990 | 128-142 | diseaseC1333990 | denotes | Lynch syndrome |
| 16541406-0#144#149#diseaseC1333990 | 144-149 | diseaseC1333990 | denotes | HNPCC |
| 16541406-0#128#142#diseaseC1333990 | 128-142 | diseaseC1333990 | denotes | Lynch syndrome |
| 16541406-0#144#149#diseaseC1333990 | 144-149 | diseaseC1333990 | denotes | HNPCC |
| 44#48#gene4292128#142#diseaseC1333990 | 16541406-0#44#48#gene4292 | 16541406-0#128#142#diseaseC1333990 | associated_with | MLH1,Lynch syndrome |
| 44#48#gene4292144#149#diseaseC1333990 | 16541406-0#44#48#gene4292 | 16541406-0#144#149#diseaseC1333990 | associated_with | MLH1,HNPCC |
| 44#48#gene4292128#142#diseaseC1333990 | 16541406-0#44#48#gene4292 | 16541406-0#128#142#diseaseC1333990 | associated_with | MLH1,Lynch syndrome |
| 44#48#gene4292144#149#diseaseC1333990 | 16541406-0#44#48#gene4292 | 16541406-0#144#149#diseaseC1333990 | associated_with | MLH1,HNPCC |
| 53#57#gene4436128#142#diseaseC1333990 | 16541406-0#53#57#gene4436 | 16541406-0#128#142#diseaseC1333990 | associated_with | MSH2,Lynch syndrome |
| 53#57#gene4436144#149#diseaseC1333990 | 16541406-0#53#57#gene4436 | 16541406-0#144#149#diseaseC1333990 | associated_with | MSH2,HNPCC |
| 53#57#gene4436128#142#diseaseC1333990 | 16541406-0#53#57#gene4436 | 16541406-0#128#142#diseaseC1333990 | associated_with | MSH2,Lynch syndrome |
| 53#57#gene4436144#149#diseaseC1333990 | 16541406-0#53#57#gene4436 | 16541406-0#144#149#diseaseC1333990 | associated_with | MSH2,HNPCC |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 219-223 | gene:4292 | denotes | MLH1 |
| T1 | 257-271 | disease:C1333990 | denotes | Lynch Syndrome |
| T2 | 219-223 | gene:4292 | denotes | MLH1 |
| T3 | 273-278 | disease:C1333990 | denotes | HNPCC |
| T4 | 228-232 | gene:4436 | denotes | MSH2 |
| T5 | 257-271 | disease:C1333990 | denotes | Lynch Syndrome |
| T6 | 228-232 | gene:4436 | denotes | MSH2 |
| T7 | 273-278 | disease:C1333990 | denotes | HNPCC |
| R1 | T0 | T1 | associated_with | MLH1,Lynch Syndrome |
| R2 | T2 | T3 | associated_with | MLH1,HNPCC |
| R3 | T4 | T5 | associated_with | MSH2,Lynch Syndrome |
| R4 | T6 | T7 | associated_with | MSH2,HNPCC |