PubMed:15951966
Annnotations
LitCoin-sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-68 | Sentence | denotes | Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH. |
| T2 | 69-80 | Sentence | denotes | BACKGROUND: |
| T3 | 81-284 | Sentence | denotes | Exonic deletions in MSH2 and MLH1 are significant contributors to the mutation spectrum in HNPCC, and heterozygous changes in exon copy number are not detected by conventional mutation screening methods. |
| T4 | 285-290 | Sentence | denotes | AIMS: |
| T5 | 291-467 | Sentence | denotes | We aimed to develop methods for screening copy number changes in all the exons of the MLH1 and MSH2 genes using a single multiplex amplifiable probe hybridisation (MAPH) assay. |
| T6 | 468-476 | Sentence | denotes | METHODS: |
| T7 | 477-703 | Sentence | denotes | We developed a probe set consisting of probes from the 19 exons of MLH1 and 16 exons of MSH2, and 3 control probes, and applied it to screening for deletions and duplications using fluorescent detection of amplified fragments. |
| T8 | 704-712 | Sentence | denotes | RESULTS: |
| T9 | 713-884 | Sentence | denotes | We tested 73 DNA samples from controls and 50 from HNPCC patients in whom no point mutations had been found, and detected 10 copy number changes among the patient samples. |
| T10 | 885-1081 | Sentence | denotes | A deletion of about 1.4 kb including exon 3 of MSH2 was confirmed by amplification of a junction fragment, and was shown to be the result of an unequal recombination between intronic Alu elements. |
| T11 | 1082-1182 | Sentence | denotes | CONCLUSIONS: MAPH can detect exonic copy number changes in MLH1 and MSH2 in DNA from HNPCC patients. |
| T12 | 1183-1378 | Sentence | denotes | Since finding an exonic deletion or duplication makes full sequence analysis unnecessary, it may be most cost-effective to pre-screen samples by MAPH or MLPA before screening for point mutations. |
LitCoin-entities
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| 1944 | 46-50 | GeneOrGeneProduct | denotes | MSH2 | NCBIGene:4436 |
| 1945 | 55-59 | GeneOrGeneProduct | denotes | MLH1 | NCBIGene:4292 |
| 1946 | 101-105 | GeneOrGeneProduct | denotes | MSH2 | NCBIGene:4436 |
| 1947 | 110-114 | GeneOrGeneProduct | denotes | MLH1 | NCBIGene:4292 |
| 1948 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC | MESH:D003123 |
| 1949 | 377-381 | GeneOrGeneProduct | denotes | MLH1 | NCBIGene:4292 |
| 1950 | 386-390 | GeneOrGeneProduct | denotes | MSH2 | NCBIGene:4436 |
| 1951 | 544-548 | GeneOrGeneProduct | denotes | MLH1 | NCBIGene:4292 |
| 1952 | 565-569 | GeneOrGeneProduct | denotes | MSH2 | NCBIGene:4436 |
| 1953 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC | MESH:D003123 |
| 1954 | 770-778 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 1955 | 868-875 | OrganismTaxon | denotes | patient | NCBITaxon:9606 |
| 1956 | 932-936 | GeneOrGeneProduct | denotes | MSH2 | NCBIGene:4436 |
| 1957 | 1141-1145 | GeneOrGeneProduct | denotes | MLH1 | NCBIGene:4292 |
| 1958 | 1150-1154 | GeneOrGeneProduct | denotes | MSH2 | NCBIGene:4436 |
| 1959 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC | MESH:D003123 |
| 1960 | 1173-1181 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
LitCoin-SeqVar
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 57-64 | SequenceVariant | denotes | H1 by M |
| T2 | 887-904 | SequenceVariant | denotes | deletion of about |
LitCoin-GeneOrGeneProduct-v0
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 33-42 | GeneOrGeneProduct | denotes | mutations |
| T2 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T3 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T4 | 101-105 | GeneOrGeneProduct | denotes | MSH2 |
| T5 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T6 | 151-159 | GeneOrGeneProduct | denotes | mutation |
| T7 | 172-177 | GeneOrGeneProduct | denotes | HNPCC |
| T8 | 257-265 | GeneOrGeneProduct | denotes | mutation |
| T9 | 276-283 | GeneOrGeneProduct | denotes | methods |
| T10 | 311-318 | GeneOrGeneProduct | denotes | methods |
| T11 | 356-359 | GeneOrGeneProduct | denotes | all |
| T12 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T13 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T14 | 468-475 | GeneOrGeneProduct | denotes | METHODS |
| T15 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T16 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T17 | 571-576 | GeneOrGeneProduct | denotes | and 3 |
| T18 | 639-651 | GeneOrGeneProduct | denotes | duplications |
| T19 | 716-722 | GeneOrGeneProduct | denotes | tested |
| T20 | 764-769 | GeneOrGeneProduct | denotes | HNPCC |
| T21 | 790-795 | GeneOrGeneProduct | denotes | point |
| T22 | 796-805 | GeneOrGeneProduct | denotes | mutations |
| T23 | 932-936 | GeneOrGeneProduct | denotes | MSH2 |
| T24 | 1037-1050 | GeneOrGeneProduct | denotes | recombination |
| T25 | 1141-1145 | GeneOrGeneProduct | denotes | MLH1 |
| T26 | 1150-1154 | GeneOrGeneProduct | denotes | MSH2 |
| T27 | 1167-1172 | GeneOrGeneProduct | denotes | HNPCC |
| T28 | 1189-1196 | GeneOrGeneProduct | denotes | finding |
| T29 | 1219-1230 | GeneOrGeneProduct | denotes | duplication |
| T30 | 1237-1241 | GeneOrGeneProduct | denotes | full |
| T31 | 1288-1292 | GeneOrGeneProduct | denotes | cost |
| T32 | 1336-1340 | GeneOrGeneProduct | denotes | MLPA |
| T33 | 1362-1367 | GeneOrGeneProduct | denotes | point |
| T34 | 1368-1377 | GeneOrGeneProduct | denotes | mutations |
LitCoin-GeneOrGeneProduct-v2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T2 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T3 | 101-105 | GeneOrGeneProduct | denotes | MSH2 |
| T4 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T5 | 172-177 | GeneOrGeneProduct | denotes | HNPCC |
| T6 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T7 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T8 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T9 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T10 | 764-769 | GeneOrGeneProduct | denotes | HNPCC |
| T11 | 932-936 | GeneOrGeneProduct | denotes | MSH2 |
| T12 | 1037-1050 | GeneOrGeneProduct | denotes | recombination |
| T13 | 1141-1145 | GeneOrGeneProduct | denotes | MLH1 |
| T14 | 1150-1154 | GeneOrGeneProduct | denotes | MSH2 |
| T15 | 1167-1172 | GeneOrGeneProduct | denotes | HNPCC |
LitCoin-Disease-MeSH
| Id | Subject | Object | Predicate | Lexical cue | originalLabel |
|---|---|---|---|---|---|
| T1 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T2 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T3 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
LitCoin-GeneOrGeneProduct-v3
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T2 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T3 | 101-105 | GeneOrGeneProduct | denotes | MSH2 |
| T4 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T5 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T6 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T7 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T8 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T9 | 932-936 | GeneOrGeneProduct | denotes | MSH2 |
| T10 | 1141-1145 | GeneOrGeneProduct | denotes | MLH1 |
| T11 | 1150-1154 | GeneOrGeneProduct | denotes | MSH2 |
LitCoin_Mondo_095
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC | 0018630 |
| T2 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC | 0018630 |
| T3 | 1100-1103 | DiseaseOrPhenotypicFeature | denotes | can | 0012833 |
| T4 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC | 0018630 |
LitCoin-MeSH-Disease-2
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T2 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T3 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
LitCoin-MONDO_bioort2019
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T2 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T3 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
LitCoin-NCBITaxon-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 770-778 | OrganismTaxon | denotes | patients |
| T2 | 868-875 | OrganismTaxon | denotes | patient |
| T3 | 1173-1181 | OrganismTaxon | denotes | patients |
LitCoin-training-merged
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T11 | 1150-1154 | GeneOrGeneProduct | denotes | MSH2 | |
| T10 | 1141-1145 | GeneOrGeneProduct | denotes | MLH1 | |
| T9 | 932-936 | GeneOrGeneProduct | denotes | MSH2 | |
| T8 | 565-569 | GeneOrGeneProduct | denotes | MSH2 | |
| T7 | 544-548 | GeneOrGeneProduct | denotes | MLH1 | |
| T6 | 386-390 | GeneOrGeneProduct | denotes | MSH2 | |
| T5 | 377-381 | GeneOrGeneProduct | denotes | MLH1 | |
| T4 | 110-114 | GeneOrGeneProduct | denotes | MLH1 | |
| T3 | 101-105 | GeneOrGeneProduct | denotes | MSH2 | |
| T2 | 55-59 | GeneOrGeneProduct | denotes | MLH1 | |
| T1 | 46-50 | GeneOrGeneProduct | denotes | MSH2 | |
| T3928 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T91820 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T45079 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC | DISEASE |
| T32182 | 1173-1181 | OrganismTaxon | denotes | patients | |
| T15786 | 868-875 | OrganismTaxon | denotes | patient | |
| T86915 | 770-778 | OrganismTaxon | denotes | patients | |
| T25583 | 887-904 | SequenceVariant | denotes | deletion of about | |
| T96994 | 57-64 | SequenceVariant | denotes | H1 by M |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 15951966-6#55#59#gene4436 | 1150-1154 | gene4436 | denotes | MSH2 |
| 15951966-6#72#77#diseaseC1333990 | 1167-1172 | diseaseC1333990 | denotes | HNPCC |
| 55#59#gene443672#77#diseaseC1333990 | 15951966-6#55#59#gene4436 | 15951966-6#72#77#diseaseC1333990 | associated_with | MSH2,HNPCC |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 386-390 | gene:4436 | denotes | MSH2 |
| T1 | 764-769 | disease:C1333990 | denotes | HNPCC |
| R1 | T0 | T1 | associated_with | MSH2,HNPCC |
biored-valid-deepseek-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T2 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T3 | 63-67 | GeneOrGeneProduct | denotes | MAPH |
| T4 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T5 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T6 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T7 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T8 | 455-459 | GeneOrGeneProduct | denotes | MAPH |
| T9 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T10 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T11 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T12 | 1068-1071 | SequenceVariant | denotes | Alu |
| T13 | 1336-1340 | GeneOrGeneProduct | denotes | MLPA |
biored-valid-deepseek-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T2 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T3 | 63-67 | ChemicalEntity | denotes | MAPH |
| T4 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T5 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T6 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T7 | 455-459 | ChemicalEntity | denotes | MAPH |
| T8 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T9 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T10 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T11 | 1336-1340 | ChemicalEntity | denotes | MLPA |
biored-valid
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T2 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T3 | 101-105 | GeneOrGeneProduct | denotes | MSH2 |
| T4 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T5 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T6 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T7 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T8 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T9 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T10 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T11 | 770-778 | OrganismTaxon | denotes | patients |
| T12 | 868-875 | OrganismTaxon | denotes | patient |
| T13 | 932-936 | GeneOrGeneProduct | denotes | MSH2 |
| T14 | 1141-1145 | GeneOrGeneProduct | denotes | MLH1 |
| T15 | 1150-1154 | GeneOrGeneProduct | denotes | MSH2 |
| T16 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T17 | 1173-1181 | OrganismTaxon | denotes | patients |
biored-valid-deepseek-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 14-42 | SequenceVariant | denotes | exonic copy number mutations |
| T2 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T3 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T4 | 88-97 | SequenceVariant | denotes | deletions |
| T5 | 101-105 | GeneOrGeneProduct | denotes | MSH2 |
| T6 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T7 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T8 | 333-352 | SequenceVariant | denotes | copy number changes |
| T9 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T10 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T11 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T12 | 625-634 | SequenceVariant | denotes | deletions |
| T13 | 639-651 | SequenceVariant | denotes | duplications |
| T14 | 726-729 | ChemicalEntity | denotes | DNA |
| T15 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T16 | 1068-1080 | SequenceVariant | denotes | Alu elements |
biored-valid-deepseek-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 14-42 | SequenceVariant | denotes | exonic copy number mutations |
| T2 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T3 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T4 | 81-97 | SequenceVariant | denotes | Exonic deletions |
| T5 | 101-105 | GeneOrGeneProduct | denotes | MSH2 |
| T6 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T7 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T8 | 183-223 | SequenceVariant | denotes | heterozygous changes in exon copy number |
| T9 | 333-352 | SequenceVariant | denotes | copy number changes |
| T10 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T11 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T12 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T13 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T14 | 625-651 | SequenceVariant | denotes | deletions and duplications |
| T15 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T16 | 790-805 | SequenceVariant | denotes | point mutations |
| T17 | 1111-1137 | SequenceVariant | denotes | exonic copy number changes |
| T18 | 1200-1230 | SequenceVariant | denotes | exonic deletion or duplication |
biored-valid-gemini-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T2 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T3 | 81-87 | SequenceVariant | denotes | Exonic |
| T4 | 101-105 | GeneOrGeneProduct | denotes | MSH2 |
| T5 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T6 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T7 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T8 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T9 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T10 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T11 | 639-650 | SequenceVariant | denotes | duplication |
| T12 | 726-729 | ChemicalEntity | denotes | DNA |
| T13 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T14 | 790-805 | SequenceVariant | denotes | point mutations |
| T15 | 835-857 | SequenceVariant | denotes | 10 copy number changes |
| T16 | 932-936 | GeneOrGeneProduct | denotes | MSH2 |
| T17 | 1068-1080 | GeneOrGeneProduct | denotes | Alu elements |
| T18 | 1200-1215 | SequenceVariant | denotes | exonic deletion |
biored-valid-gemini-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 14-42 | SequenceVariant | denotes | exonic copy number mutations |
| T2 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T3 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T4 | 81-97 | SequenceVariant | denotes | Exonic deletions |
| T5 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T6 | 183-223 | SequenceVariant | denotes | heterozygous changes in exon copy number |
| T7 | 333-352 | SequenceVariant | denotes | copy number changes |
| T8 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T9 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T10 | 516-522 | ChemicalEntity | denotes | probes |
| T11 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T12 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T13 | 625-634 | SequenceVariant | denotes | deletions |
| T14 | 639-651 | SequenceVariant | denotes | duplications |
| T15 | 726-729 | ChemicalEntity | denotes | DNA |
| T16 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T17 | 790-805 | SequenceVariant | denotes | point mutations |
| T18 | 838-857 | SequenceVariant | denotes | copy number changes |
| T19 | 887-895 | SequenceVariant | denotes | deletion |
| T20 | 932-936 | GeneOrGeneProduct | denotes | MSH2 |
| T21 | 1068-1080 | GeneOrGeneProduct | denotes | Alu elements |
| T22 | 1111-1137 | SequenceVariant | denotes | exonic copy number changes |
| T23 | 1141-1145 | GeneOrGeneProduct | denotes | MLH1 |
| T24 | 1158-1161 | ChemicalEntity | denotes | DNA |
| T25 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T26 | 1200-1215 | SequenceVariant | denotes | exonic deletion |
| T27 | 1219-1230 | SequenceVariant | denotes | duplication |
| T28 | 1362-1377 | SequenceVariant | denotes | point mutations |
biored-valid-gemini-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 14-42 | SequenceVariant | denotes | exonic copy number mutations |
| T2 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T3 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T4 | 81-97 | SequenceVariant | denotes | Exonic deletions |
| T5 | 101-105 | GeneOrGeneProduct | denotes | MSH2 |
| T6 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T7 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T8 | 183-223 | SequenceVariant | denotes | heterozygous changes in exon copy number |
| T9 | 333-352 | SequenceVariant | denotes | copy number changes |
| T10 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T11 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T12 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T13 | 625-634 | SequenceVariant | denotes | deletions |
| T14 | 639-651 | SequenceVariant | denotes | duplications |
| T15 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T16 | 790-805 | SequenceVariant | denotes | point mutations |
| T17 | 838-857 | SequenceVariant | denotes | copy number changes |
| T18 | 932-936 | GeneOrGeneProduct | denotes | MSH2 |
| T19 | 1068-1080 | GeneOrGeneProduct | denotes | Alu elements |
| T20 | 1111-1137 | SequenceVariant | denotes | exonic copy number changes |
| T21 | 1141-1145 | GeneOrGeneProduct | denotes | MLH1 |
| T22 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T23 | 1200-1215 | SequenceVariant | denotes | exonic deletion |
| T24 | 1219-1230 | SequenceVariant | denotes | duplication |
| T25 | 1362-1377 | SequenceVariant | denotes | point mutations |
biored-valid-gpt-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 14-42 | SequenceVariant | denotes | exonic copy number mutations |
| T2 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T3 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T4 | 81-97 | SequenceVariant | denotes | Exonic deletions |
| T5 | 101-105 | GeneOrGeneProduct | denotes | MSH2 |
| T6 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T7 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T8 | 333-352 | SequenceVariant | denotes | copy number changes |
| T9 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T10 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T11 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T12 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T13 | 625-634 | SequenceVariant | denotes | deletions |
| T14 | 639-651 | SequenceVariant | denotes | duplications |
| T15 | 726-729 | ChemicalEntity | denotes | DNA |
| T16 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T17 | 790-805 | SequenceVariant | denotes | point mutations |
| T18 | 838-857 | SequenceVariant | denotes | copy number changes |
| T19 | 887-895 | SequenceVariant | denotes | deletion |
| T20 | 932-936 | GeneOrGeneProduct | denotes | MSH2 |
| T21 | 1111-1137 | SequenceVariant | denotes | exonic copy number changes |
| T22 | 1141-1145 | GeneOrGeneProduct | denotes | MLH1 |
| T23 | 1150-1154 | GeneOrGeneProduct | denotes | MSH2 |
| T24 | 1158-1161 | ChemicalEntity | denotes | DNA |
| T25 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T26 | 1200-1215 | SequenceVariant | denotes | exonic deletion |
| T27 | 1219-1230 | SequenceVariant | denotes | duplication |
| T28 | 1362-1377 | SequenceVariant | denotes | point mutations |
biored-valid-gpt-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 14-42 | SequenceVariant | denotes | exonic copy number mutations |
| T2 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T3 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T4 | 81-97 | SequenceVariant | denotes | Exonic deletions |
| T5 | 101-105 | GeneOrGeneProduct | denotes | MSH2 |
| T6 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T7 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T8 | 183-223 | SequenceVariant | denotes | heterozygous changes in exon copy number |
| T9 | 333-352 | SequenceVariant | denotes | copy number changes |
| T10 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T11 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T12 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T13 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T14 | 625-651 | SequenceVariant | denotes | deletions and duplications |
| T15 | 726-729 | ChemicalEntity | denotes | DNA |
| T16 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T17 | 790-805 | SequenceVariant | denotes | point mutations |
| T18 | 838-857 | SequenceVariant | denotes | copy number changes |
| T19 | 887-911 | SequenceVariant | denotes | deletion of about 1.4 kb |
| T20 | 932-936 | GeneOrGeneProduct | denotes | MSH2 |
| T21 | 1111-1137 | SequenceVariant | denotes | exonic copy number changes |
| T22 | 1141-1145 | GeneOrGeneProduct | denotes | MLH1 |
| T23 | 1150-1154 | GeneOrGeneProduct | denotes | MSH2 |
| T24 | 1158-1161 | ChemicalEntity | denotes | DNA |
| T25 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T26 | 1200-1230 | SequenceVariant | denotes | exonic deletion or duplication |
| T27 | 1362-1377 | SequenceVariant | denotes | point mutations |
biored-valid-gpt-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 14-42 | SequenceVariant | denotes | exonic copy number mutations |
| T2 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T3 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T4 | 81-97 | SequenceVariant | denotes | Exonic deletions |
| T5 | 101-105 | GeneOrGeneProduct | denotes | MSH2 |
| T6 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T7 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T8 | 183-223 | SequenceVariant | denotes | heterozygous changes in exon copy number |
| T9 | 333-352 | SequenceVariant | denotes | copy number changes |
| T10 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T11 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T12 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T13 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T14 | 625-651 | SequenceVariant | denotes | deletions and duplications |
| T15 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T16 | 790-805 | SequenceVariant | denotes | point mutations |
| T17 | 838-857 | SequenceVariant | denotes | copy number changes |
| T18 | 885-911 | SequenceVariant | denotes | A deletion of about 1.4 kb |
| T19 | 932-936 | GeneOrGeneProduct | denotes | MSH2 |
| T20 | 1111-1137 | SequenceVariant | denotes | exonic copy number changes |
| T21 | 1141-1145 | GeneOrGeneProduct | denotes | MLH1 |
| T22 | 1150-1154 | GeneOrGeneProduct | denotes | MSH2 |
| T23 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T24 | 1200-1230 | SequenceVariant | denotes | exonic deletion or duplication |
| T25 | 1362-1377 | SequenceVariant | denotes | point mutations |
biored-valid-gpt-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 14-42 | SequenceVariant | denotes | exonic copy number mutations |
| T2 | 46-59 | GeneOrGeneProduct | denotes | MSH2 and MLH1 |
| T3 | 81-97 | SequenceVariant | denotes | Exonic deletions |
| T4 | 101-114 | GeneOrGeneProduct | denotes | MSH2 and MLH1 |
| T5 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T6 | 183-223 | SequenceVariant | denotes | heterozygous changes in exon copy number |
| T7 | 333-352 | SequenceVariant | denotes | copy number changes |
| T8 | 377-396 | GeneOrGeneProduct | denotes | MLH1 and MSH2 genes |
| T9 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T10 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T11 | 625-651 | SequenceVariant | denotes | deletions and duplications |
| T12 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T13 | 790-805 | SequenceVariant | denotes | point mutations |
| T14 | 838-857 | SequenceVariant | denotes | copy number changes |
| T15 | 887-911 | SequenceVariant | denotes | deletion of about 1.4 kb |
| T16 | 932-936 | GeneOrGeneProduct | denotes | MSH2 |
| T17 | 1111-1137 | SequenceVariant | denotes | exonic copy number changes |
| T18 | 1141-1154 | GeneOrGeneProduct | denotes | MLH1 and MSH2 |
| T19 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T20 | 1200-1230 | SequenceVariant | denotes | exonic deletion or duplication |
| T21 | 1362-1377 | SequenceVariant | denotes | point mutations |
biored-valid-gemini-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T2 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T3 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T4 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T5 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T6 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T7 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T8 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
biored-valid-gpt-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 14-42 | SequenceVariant | denotes | exonic copy number mutations |
| T2 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T3 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T4 | 81-97 | SequenceVariant | denotes | Exonic deletions |
| T5 | 101-105 | GeneOrGeneProduct | denotes | MSH2 |
| T6 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T7 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T8 | 196-223 | SequenceVariant | denotes | changes in exon copy number |
| T9 | 333-352 | SequenceVariant | denotes | copy number changes |
| T10 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T11 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T12 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T13 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T14 | 625-634 | SequenceVariant | denotes | deletions |
| T15 | 639-651 | SequenceVariant | denotes | duplications |
| T16 | 726-729 | ChemicalEntity | denotes | DNA |
| T17 | 743-751 | OrganismTaxon | denotes | controls |
| T18 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T19 | 770-778 | OrganismTaxon | denotes | patients |
| T20 | 790-805 | SequenceVariant | denotes | point mutations |
| T21 | 838-857 | SequenceVariant | denotes | copy number changes |
| T22 | 868-875 | OrganismTaxon | denotes | patient |
| T23 | 887-895 | SequenceVariant | denotes | deletion |
| T24 | 932-936 | GeneOrGeneProduct | denotes | MSH2 |
| T25 | 1111-1137 | SequenceVariant | denotes | exonic copy number changes |
| T26 | 1141-1145 | GeneOrGeneProduct | denotes | MLH1 |
| T27 | 1150-1154 | GeneOrGeneProduct | denotes | MSH2 |
| T28 | 1158-1161 | ChemicalEntity | denotes | DNA |
| T29 | 1167-1172 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T30 | 1173-1181 | OrganismTaxon | denotes | patients |
| T31 | 1200-1230 | SequenceVariant | denotes | exonic deletion or duplication |
| T32 | 1362-1377 | SequenceVariant | denotes | point mutations |
biored-valid-gemini-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 14-42 | SequenceVariant | denotes | exonic copy number mutations |
| T2 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T3 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T4 | 81-97 | SequenceVariant | denotes | Exonic deletions |
| T5 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T6 | 183-223 | SequenceVariant | denotes | heterozygous changes in exon copy number |
| T7 | 333-352 | SequenceVariant | denotes | copy number changes |
| T8 | 377-381 | GeneOrGeneProduct | denotes | MLH1 |
| T9 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T10 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T11 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T12 | 625-634 | SequenceVariant | denotes | deletions |
| T13 | 639-651 | SequenceVariant | denotes | duplications |
| T14 | 743-751 | OrganismTaxon | denotes | controls |
| T15 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T16 | 770-778 | OrganismTaxon | denotes | patients |
| T17 | 790-805 | SequenceVariant | denotes | point mutations |
| T18 | 838-857 | SequenceVariant | denotes | copy number changes |
| T19 | 932-936 | GeneOrGeneProduct | denotes | MSH2 |
| T20 | 1068-1080 | GeneOrGeneProduct | denotes | Alu elements |
| T21 | 1111-1137 | SequenceVariant | denotes | exonic copy number changes |
| T22 | 1200-1215 | SequenceVariant | denotes | exonic deletion |
biored-valid-deepseek-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 14-42 | SequenceVariant | denotes | exonic copy number mutations |
| T2 | 46-50 | GeneOrGeneProduct | denotes | MSH2 |
| T3 | 55-59 | GeneOrGeneProduct | denotes | MLH1 |
| T4 | 81-97 | SequenceVariant | denotes | Exonic deletions |
| T5 | 101-105 | GeneOrGeneProduct | denotes | MSH2 |
| T6 | 110-114 | GeneOrGeneProduct | denotes | MLH1 |
| T7 | 172-177 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T8 | 333-352 | SequenceVariant | denotes | copy number changes |
| T9 | 386-390 | GeneOrGeneProduct | denotes | MSH2 |
| T10 | 544-548 | GeneOrGeneProduct | denotes | MLH1 |
| T11 | 565-569 | GeneOrGeneProduct | denotes | MSH2 |
| T12 | 639-651 | SequenceVariant | denotes | duplications |
| T13 | 764-769 | DiseaseOrPhenotypicFeature | denotes | HNPCC |
| T14 | 790-805 | SequenceVariant | denotes | point mutations |
| T15 | 887-936 | SequenceVariant | denotes | deletion of about 1.4 kb including exon 3 of MSH2 |
| T16 | 1200-1230 | SequenceVariant | denotes | exonic deletion or duplication |