PubMed:10627141
Annnotations
c_corpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T3 | 26-29 | SO:0000352 | denotes | DNA |
| T1 | 26-29 | GO:0005574 | denotes | DNA |
| T2 | 26-29 | CHEBI:16991 | denotes | DNA |
| T4 | 26-29 | D004247 | denotes | DNA |
| T5 | 30-45 | GO:0006298 | denotes | mismatch repair |
| T6 | 46-50 | SO:0000704 | denotes | gene |
| T10 | 51-55 | CVCL_G669 | denotes | MLH1 |
| T7 | 51-55 | PR:Q9ZRV4 | denotes | MLH1 |
| T8 | 51-55 | PR:P38920 | denotes | MLH1 |
| T9 | 51-55 | PR:Q54KD8 | denotes | MLH1 |
| T11 | 51-55 | PR:Q9JK91 | denotes | MLH1 |
| T12 | 51-55 | PR:P97679 | denotes | MLH1 |
| T13 | 51-55 | PR:Q9P7W6 | denotes | MLH1 |
| T14 | 51-55 | PR:000010442 | denotes | MLH1 |
| T15 | 51-55 | PR:P40692 | denotes | MLH1 |
| T16 | 59-77 | D015179 | denotes | colorectal cancers |
| T17 | 59-77 | D015179 | denotes | colorectal cancers |
| T20 | 83-97 | SO:0000289 | denotes | microsatellite |
| T21 | 83-109 | D053842 | denotes | microsatellite instability |
| T22 | 83-109 | D053842 | denotes | microsatellite instability |
| T23 | 171-188 | D015179 | denotes | colorectal cancer |
| T24 | 171-188 | D015179 | denotes | colorectal cancer |
| T25 | 237-245 | SO:0000109 | denotes | mutation |
| T27 | 261-264 | CHEBI:16991 | denotes | DNA |
| T29 | 261-264 | D004247 | denotes | DNA |
| T26 | 261-264 | GO:0005574 | denotes | DNA |
| T28 | 261-264 | SO:0000352 | denotes | DNA |
| T30 | 265-280 | GO:0006298 | denotes | mismatch repair |
| T31 | 363-381 | D015179 | denotes | colorectal cancers |
| T32 | 363-381 | D015179 | denotes | colorectal cancers |
| T37 | 395-398 | SO:0000352 | denotes | DNA |
| T35 | 395-398 | GO:0005574 | denotes | DNA |
| T36 | 395-398 | CHEBI:16991 | denotes | DNA |
| T38 | 395-398 | D004247 | denotes | DNA |
| T39 | 399-414 | GO:0006298 | denotes | mismatch repair |
| T40 | 428-431 | PR:000008976 | denotes | RER |
| T42 | 428-431 | PR:Q9Z1M8 | denotes | RER |
| T43 | 428-431 | PR:Q13123 | denotes | RER |
| T41 | 428-431 | GO:0005791 | denotes | RER |
| T44 | 452-457 | D009369 | denotes | tumor |
| T45 | 452-457 | D009369 | denotes | tumor |
| T46 | 524-542 | D015179 | denotes | colorectal cancers |
| T47 | 524-542 | D015179 | denotes | colorectal cancers |
| T50 | 551-554 | PR:000008976 | denotes | RER |
| T52 | 551-554 | PR:Q9Z1M8 | denotes | RER |
| T53 | 551-554 | PR:Q13123 | denotes | RER |
| T51 | 551-554 | GO:0005791 | denotes | RER |
| T54 | 580-587 | D009369 | denotes | cancers |
| T55 | 580-587 | D009369 | denotes | cancers |
| T56 | 593-596 | PR:000008976 | denotes | RER |
| T58 | 593-596 | PR:Q9Z1M8 | denotes | RER |
| T59 | 593-596 | PR:Q13123 | denotes | RER |
| T57 | 593-596 | GO:0005791 | denotes | RER |
| T60 | 607-610 | PR:000008976 | denotes | RER |
| T62 | 607-610 | PR:Q9Z1M8 | denotes | RER |
| T63 | 607-610 | PR:Q13123 | denotes | RER |
| T61 | 607-610 | GO:0005791 | denotes | RER |
| T64 | 620-626 | D009369 | denotes | tumors |
| T65 | 620-626 | D009369 | denotes | tumors |
| T68 | 666-669 | SO:0000352 | denotes | DNA |
| T66 | 666-669 | GO:0005574 | denotes | DNA |
| T67 | 666-669 | CHEBI:16991 | denotes | DNA |
| T69 | 666-669 | D004247 | denotes | DNA |
| T70 | 670-685 | GO:0006298 | denotes | mismatch repair |
| T71 | 686-690 | SO:0000704 | denotes | gene |
| T75 | 691-695 | CVCL_G669 | denotes | MLH1 |
| T72 | 691-695 | PR:Q9ZRV4 | denotes | MLH1 |
| T73 | 691-695 | PR:P38920 | denotes | MLH1 |
| T74 | 691-695 | PR:Q54KD8 | denotes | MLH1 |
| T76 | 691-695 | PR:Q9JK91 | denotes | MLH1 |
| T77 | 691-695 | PR:P97679 | denotes | MLH1 |
| T78 | 691-695 | PR:Q9P7W6 | denotes | MLH1 |
| T79 | 691-695 | PR:000010442 | denotes | MLH1 |
| T80 | 691-695 | PR:P40692 | denotes | MLH1 |
| T81 | 709-715 | SO:0001111 | denotes | strand |
| T82 | 869-883 | SO:1000008 | denotes | point mutation |
| T85 | 887-892 | D003062 | denotes | codon |
| T84 | 887-892 | SO:0000360 | denotes | codon |
| T86 | 897-900 | CHEBI:73837 | denotes | AGG |
| T88 | 907-910 | PR:000013890 | denotes | arg |
| T90 | 907-910 | PR:P42684 | denotes | arg |
| T91 | 907-910 | PR:Q9P2R6 | denotes | arg |
| T93 | 907-910 | PR:Q4JIM5 | denotes | arg |
| T97 | 907-910 | PR:000003583 | denotes | arg |
| T89 | 907-910 | CHEBI:32685 | denotes | arg |
| T92 | 907-910 | CHEBI:16467 | denotes | arg |
| T94 | 907-910 | CHEBI:32684 | denotes | arg |
| T95 | 907-910 | CHEBI:29952 | denotes | arg |
| T96 | 907-910 | CHEBI:32695 | denotes | arg |
| T87 | 907-910 | SO:0001451 | denotes | arg |
| T102 | 929-933 | CHEBI:22695 | denotes | base |
| T104 | 929-938 | SO:0000028 | denotes | base pair |
| T105 | 939-947 | SO:0000159 | denotes | deletion |
| T107 | 951-956 | D003062 | denotes | codon |
| T106 | 951-956 | SO:0000360 | denotes | codon |
| T109 | 1003-1013 | D018388 | denotes | stop codon |
| T110 | 1003-1013 | SO:0000319 | denotes | stop codon |
| T113 | 1014-1024 | SO:0001633 | denotes | downstream |
| T114 | 1032-1046 | SO:1000008 | denotes | point mutation |
| T117 | 1050-1055 | D003062 | denotes | codon |
| T116 | 1050-1055 | SO:0000360 | denotes | codon |
| T118 | 1061-1064 | P0C1B4 | denotes | TAA |
| T120 | 1061-1064 | P0C1B3 | denotes | TAA |
| T119 | 1061-1064 | CHEBI:32497 | denotes | TAA |
| T121 | 1061-1064 | CHEBI:73654 | denotes | TAA |
| T124 | 1108-1112 | PR:Q9ZRV4 | denotes | MLH1 |
| T125 | 1108-1112 | PR:P38920 | denotes | MLH1 |
| T126 | 1108-1112 | PR:Q54KD8 | denotes | MLH1 |
| T128 | 1108-1112 | PR:Q9JK91 | denotes | MLH1 |
| T129 | 1108-1112 | PR:P97679 | denotes | MLH1 |
| T130 | 1108-1112 | PR:Q9P7W6 | denotes | MLH1 |
| T131 | 1108-1112 | PR:000010442 | denotes | MLH1 |
| T132 | 1108-1112 | PR:P40692 | denotes | MLH1 |
| T127 | 1108-1112 | CVCL_G669 | denotes | MLH1 |
| T134 | 1113-1120 | PR:000018264 | denotes | peptide |
| T136 | 1113-1120 | PR:000018263 | denotes | peptide |
| T135 | 1113-1120 | CHEBI:16670 | denotes | peptide |
| T133 | 1113-1120 | SO:0001064 | denotes | peptide |
| T137 | 1134-1139 | CHEBI:37527 | denotes | acids |
| T138 | 1152-1160 | SO:0000109 | denotes | mutation |
| T139 | 1169-1173 | CHEBI:22695 | denotes | base |
| T141 | 1169-1178 | SO:0000028 | denotes | base pair |
| T142 | 1179-1188 | SO:0000667 | denotes | insertion |
| T143 | 1193-1197 | CHEBI:22695 | denotes | base |
| T144 | 1193-1197 | SO:0001236 | denotes | base |
| T145 | 1223-1227 | PR:P33696 | denotes | exon |
| T146 | 1223-1227 | SO:0000147 | denotes | exon |
| T148 | 1315-1318 | CHEBI:16991 | denotes | DNA |
| T150 | 1315-1318 | D004247 | denotes | DNA |
| T149 | 1315-1318 | SO:0000352 | denotes | DNA |
| T147 | 1315-1318 | GO:0005574 | denotes | DNA |
| T151 | 1400-1403 | PR:000008976 | denotes | RER |
| T153 | 1400-1403 | PR:Q9Z1M8 | denotes | RER |
| T154 | 1400-1403 | PR:Q13123 | denotes | RER |
| T152 | 1400-1403 | GO:0005791 | denotes | RER |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 182-188 | HP_0002664 | denotes | cancer |
| T2 | 288-305 | HP_0001428 | denotes | Somatic mutations |
| T3 | 374-381 | HP_0002664 | denotes | cancers |
| T4 | 452-457 | HP_0002664 | denotes | tumor |
| T5 | 535-542 | HP_0002664 | denotes | cancers |
| T6 | 580-587 | HP_0002664 | denotes | cancers |
| T7 | 620-626 | HP_0002664 | denotes | tumors |
UseCases_ArguminSci_Discourse
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-110 | DRI_Approach | denotes | Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. |
| T2 | 111-133 | DRI_Unspecified | denotes | Mutations in brief no. |
| T3 | 134-138 | DRI_Unspecified | denotes | 157. |
| T4 | 139-146 | DRI_Unspecified | denotes | Online. |
| T5 | 147-287 | DRI_Background | denotes | Hereditary nonpolyposis colorectal cancer (HNPCC) is frequently associated with inherited mutation in one of four DNA mismatch repair genes. |
| T6 | 288-382 | DRI_Background | denotes | Somatic mutations in the same genes are also found in a subset of sporadic colorectal cancers. |
| T7 | 383-468 | DRI_Approach | denotes | A defect in DNA mismatch repair results in a RER (replication error) tumor phenotype. |
| T8 | 469-565 | DRI_Approach | denotes | We screened 110 archival and 11 prospectively acquired colorectal cancers for the RER phenotype. |
| T9 | 566-606 | DRI_Background | denotes | A total of 22 cancers were RER-positive. |
| T10 | 607-758 | DRI_Approach | denotes | RER-positive tumors were investigated for mutations in the DNA mismatch repair gene MLH1 using single-strand-conformation-polymorphism (SSCP) analysis. |
| T11 | 759-837 | DRI_Approach | denotes | We identified four previously undescribed mutations in four different samples. |
| T12 | 838-1140 | DRI_Approach | denotes | Three mutations were exonic: a point mutation at codon 69 (AGG-->AAG(arg-->lys]); a single base pair deletion at codon 42/43 (GCAAAATCC-->GCAAATCC) leading to a new stop codon downstream; and a point mutation at codon 757 (TAA-->TAT [termination-->tyr] which extend the MLH1 peptide by 36 ammino acids. |
| T13 | 1141-1254 | DRI_Approach | denotes | The fourth mutation was a 1 base pair insertion six base pairs 5' to the start of exon 14 (tttgtttt-->tttggtttt). |
| T14 | 1255-1319 | DRI_Approach | denotes | The mutations were not seen in the patients' constitutional DNA. |
| T15 | 1320-1414 | DRI_Background | denotes | The somatic MLHI mutations identified appear to be causally associated with the RER phenotype. |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10627141-0#51#55#gene4292 | 51-55 | gene4292 | denotes | MLH1 |
| 10627141-0#59#77#diseaseC1527249 | 59-77 | diseaseC1527249 | denotes | colorectal cancers |
| 51#55#gene429259#77#diseaseC1527249 | 10627141-0#51#55#gene4292 | 10627141-0#59#77#diseaseC1527249 | associated_with | MLH1,colorectal cancers |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 903-906 | gene:4350 | denotes | AAG |
| T1 | 1061-1064 | disease:C0162872 | denotes | TAA |
| T2 | 1067-1070 | gene:6898 | denotes | TAT |
| T3 | 1061-1064 | disease:C0162872 | denotes | TAA |
| T4 | 1067-1070 | gene:79969 | denotes | TAT |
| T5 | 1061-1064 | disease:C0162872 | denotes | TAA |
| R1 | T0 | T1 | associated_with | AAG,TAA |
| R2 | T2 | T3 | associated_with | TAT,TAA |
| R3 | T4 | T5 | associated_with | TAT,TAA |