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PubMed:11317354
Annnotations
PubMed_ArguminSci
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 130-338 | DRI_Background | denotes | DNA mismatch repair is of considerable scientific and medical importance because of its essential role in maintaining genomic integrity, and its association with hereditary non-polyposis colon cancer (HNPCC). |
T2 | 339-470 | DRI_Background | denotes | Germline mutations in five mismatch repair genes (MLH1, MSH2, PMS1, PMS2, and MSH6) have been associated with HNPCC susceptibility. |
T3 | 471-545 | DRI_Approach | denotes | Our laboratory recently identified MLH3, a novel DNA mismatch repair gene. |
T4 | 546-717 | DRI_Approach | denotes | We screened the MLH3 coding sequence in 60 probands with increased genetic risk factors for colorectal cancer susceptibility and no mutations in the other candidate genes. |
T5 | 718-765 | DRI_Approach | denotes | No definite MLH3 germline mutations were found. |
T6 | 766-903 | DRI_Approach | denotes | We subsequently screened 36 colon tumors, and discovered an appreciable frequency of somatic MLH3 coding mutations in MSI-H tumors (25%). |
T7 | 904-972 | DRI_Outcome | denotes | In four of six tumors, evidence of biallelic inactivation was noted. |
T8 | 973-1108 | DRI_Background | denotes | Furthermore, MLH3 nonsense mutations were identified in two of 12 microsatellite stable (MSS) tumors with 14q24 loss of heterozygosity. |
T9 | 1109-1338 | DRI_Outcome | denotes | While our analyses do not exclude the existence of germline MLH3 mutations in patients with increased genetic risk factors for colorectal cancer susceptibility, they suggest such mutations are uncommon in this patient population. |
T10 | 1339-1508 | DRI_Outcome | denotes | The finding of an appreciable frequency of somatic MLH3 mutations is consistent with a possible role for this gene in the progression of colorectal cancer tumorigenesis. |
c_corpus
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 21-29 | SO:0000109 | denotes | mutation |
T4 | 46-49 | SO:0000352 | denotes | DNA |
T3 | 46-49 | CHEBI:16991 | denotes | DNA |
T5 | 46-49 | D004247 | denotes | DNA |
T2 | 46-49 | GO:0005574 | denotes | DNA |
T6 | 50-65 | GO:0006298 | denotes | mismatch repair |
T7 | 66-70 | SO:0000704 | denotes | gene |
T8 | 71-75 | PR:F4JN26 | denotes | MLH3 |
T9 | 71-75 | PR:Q12083 | denotes | MLH3 |
T10 | 71-75 | PR:000010443 | denotes | MLH3 |
T11 | 71-75 | PR:Q9UHC1 | denotes | MLH3 |
T12 | 98-106 | SO:0000109 | denotes | mutation |
T13 | 110-128 | D015179 | denotes | colorectal cancers |
T14 | 110-128 | D015179 | denotes | colorectal cancers |
T17 | 134-149 | GO:0006298 | denotes | mismatch repair |
T18 | 317-322 | UBERON:0001155 | denotes | colon |
T19 | 317-329 | D003110 | denotes | colon cancer |
T20 | 317-329 | D015179 | denotes | colon cancer |
T21 | 317-329 | D003110 | denotes | colon cancer |
T22 | 366-381 | GO:0006298 | denotes | mismatch repair |
T23 | 389-393 | PR:Q9ZRV4 | denotes | MLH1 |
T24 | 389-393 | PR:P38920 | denotes | MLH1 |
T25 | 389-393 | PR:Q54KD8 | denotes | MLH1 |
T27 | 389-393 | PR:Q9JK91 | denotes | MLH1 |
T28 | 389-393 | PR:P97679 | denotes | MLH1 |
T29 | 389-393 | PR:Q9P7W6 | denotes | MLH1 |
T30 | 389-393 | PR:000010442 | denotes | MLH1 |
T31 | 389-393 | PR:P40692 | denotes | MLH1 |
T26 | 389-393 | CVCL_G669 | denotes | MLH1 |
T33 | 395-398 | CHEBI:16768 | denotes | MSH |
T37 | 395-398 | D009074 | denotes | MSH |
T38 | 395-398 | D009074 | denotes | MSH |
T39 | 395-399 | PR:000010666 | denotes | MSH2 |
T40 | 395-399 | PR:P25847 | denotes | MSH2 |
T41 | 395-399 | PR:P43246 | denotes | MSH2 |
T42 | 395-399 | P22711 | denotes | MSH2 |
T43 | 395-399 | PR:P22711 | denotes | MSH2 |
T44 | 395-399 | PR:P54275 | denotes | MSH2 |
T45 | 395-399 | PR:O74773 | denotes | MSH2 |
T46 | 395-399 | PR:P43247 | denotes | MSH2 |
T47 | 395-399 | PR:Q553L4 | denotes | MSH2 |
T48 | 395-399 | PR:O24617 | denotes | MSH2 |
T55 | 401-405 | PR:P14242 | denotes | PMS1 |
T56 | 401-405 | PR:000012913 | denotes | PMS1 |
T59 | 401-405 | PR:Q941I6 | denotes | PMS1 |
T60 | 401-405 | PR:P54280 | denotes | PMS1 |
T61 | 401-405 | PR:Q5NC83 | denotes | PMS1 |
T62 | 401-405 | PR:P54277 | denotes | PMS1 |
T63 | 401-405 | PR:Q54QA0 | denotes | PMS1 |
T57 | 401-405 | C102203 | denotes | PMS1 |
T58 | 401-405 | C102203 | denotes | PMS1 |
T64 | 407-410 | CHEBI:53396 | denotes | PMS |
T67 | 407-410 | CHEBI:53430 | denotes | PMS |
T69 | 407-410 | CHEBI:8055 | denotes | PMS |
T70 | 407-411 | PR:P54279 | denotes | PMS2 |
T71 | 407-411 | PR:F1NQJ3 | denotes | PMS2 |
T72 | 407-411 | PR:P38920 | denotes | PMS2 |
T73 | 407-411 | PR:000012914 | denotes | PMS2 |
T74 | 407-411 | PR:P54278 | denotes | PMS2 |
T76 | 417-420 | CHEBI:16768 | denotes | MSH |
T80 | 417-420 | D009074 | denotes | MSH |
T81 | 417-420 | D009074 | denotes | MSH |
T82 | 417-421 | PR:P52701 | denotes | MSH6 |
T83 | 417-421 | PR:P54276 | denotes | MSH6 |
T84 | 417-421 | PR:Q9VUM0 | denotes | MSH6 |
T85 | 417-421 | PR:Q55GU9 | denotes | MSH6 |
T86 | 417-421 | PR:O04716 | denotes | MSH6 |
T87 | 417-421 | PR:Q03834 | denotes | MSH6 |
T88 | 417-421 | PR:O74502 | denotes | MSH6 |
T89 | 417-421 | PR:000010670 | denotes | MSH6 |
T90 | 455-469 | D004198 | denotes | susceptibility |
T91 | 455-469 | D004198 | denotes | susceptibility |
T92 | 506-510 | PR:F4JN26 | denotes | MLH3 |
T93 | 506-510 | PR:Q12083 | denotes | MLH3 |
T94 | 506-510 | PR:000010443 | denotes | MLH3 |
T95 | 506-510 | PR:Q9UHC1 | denotes | MLH3 |
T97 | 520-523 | CHEBI:16991 | denotes | DNA |
T99 | 520-523 | D004247 | denotes | DNA |
T98 | 520-523 | SO:0000352 | denotes | DNA |
T96 | 520-523 | GO:0005574 | denotes | DNA |
T100 | 524-539 | GO:0006298 | denotes | mismatch repair |
T101 | 540-544 | SO:0000704 | denotes | gene |
T102 | 562-566 | PR:F4JN26 | denotes | MLH3 |
T103 | 562-566 | PR:Q12083 | denotes | MLH3 |
T104 | 562-566 | PR:000010443 | denotes | MLH3 |
T105 | 562-566 | PR:Q9UHC1 | denotes | MLH3 |
T106 | 567-582 | SO:0000316 | denotes | coding sequence |
T108 | 638-655 | D015179 | denotes | colorectal cancer |
T109 | 638-655 | D015179 | denotes | colorectal cancer |
T110 | 656-670 | D004198 | denotes | susceptibility |
T111 | 656-670 | D004198 | denotes | susceptibility |
T112 | 730-734 | PR:F4JN26 | denotes | MLH3 |
T113 | 730-734 | PR:Q12083 | denotes | MLH3 |
T114 | 730-734 | PR:000010443 | denotes | MLH3 |
T115 | 730-734 | PR:Q9UHC1 | denotes | MLH3 |
T116 | 794-799 | UBERON:0001155 | denotes | colon |
T117 | 800-806 | D009369 | denotes | tumors |
T118 | 800-806 | D009369 | denotes | tumors |
T119 | 859-863 | PR:F4JN26 | denotes | MLH3 |
T120 | 859-863 | PR:Q12083 | denotes | MLH3 |
T121 | 859-863 | PR:000010443 | denotes | MLH3 |
T122 | 859-863 | PR:Q9UHC1 | denotes | MLH3 |
T123 | 884-887 | PR:000006870 | denotes | MSI |
T124 | 884-887 | PR:P70245 | denotes | MSI |
T125 | 890-896 | D009369 | denotes | tumors |
T126 | 890-896 | D009369 | denotes | tumors |
T127 | 919-925 | D009369 | denotes | tumors |
T128 | 919-925 | D009369 | denotes | tumors |
T129 | 986-990 | PR:F4JN26 | denotes | MLH3 |
T130 | 986-990 | PR:Q12083 | denotes | MLH3 |
T131 | 986-990 | PR:000010443 | denotes | MLH3 |
T132 | 986-990 | PR:Q9UHC1 | denotes | MLH3 |
T133 | 991-999 | SO:0001587 | denotes | nonsense |
T134 | 991-1009 | D018389 | denotes | nonsense mutations |
T135 | 1039-1053 | SO:0000289 | denotes | microsatellite |
T136 | 1062-1065 | PR:000011146 | denotes | MSS |
T137 | 1062-1065 | Q9JMH3 | denotes | MSS |
T138 | 1062-1065 | D013132 | denotes | MSS |
T139 | 1067-1073 | D009369 | denotes | tumors |
T140 | 1067-1073 | D009369 | denotes | tumors |
T141 | 1085-1107 | SO:0001786 | denotes | loss of heterozygosity |
T142 | 1169-1173 | PR:F4JN26 | denotes | MLH3 |
T143 | 1169-1173 | PR:Q12083 | denotes | MLH3 |
T144 | 1169-1173 | PR:000010443 | denotes | MLH3 |
T145 | 1169-1173 | PR:Q9UHC1 | denotes | MLH3 |
T146 | 1236-1253 | D015179 | denotes | colorectal cancer |
T147 | 1236-1253 | D015179 | denotes | colorectal cancer |
T148 | 1254-1268 | D004198 | denotes | susceptibility |
T149 | 1254-1268 | D004198 | denotes | susceptibility |
T150 | 1390-1394 | PR:F4JN26 | denotes | MLH3 |
T151 | 1390-1394 | PR:Q12083 | denotes | MLH3 |
T152 | 1390-1394 | PR:000010443 | denotes | MLH3 |
T153 | 1390-1394 | PR:Q9UHC1 | denotes | MLH3 |
T154 | 1449-1453 | SO:0000704 | denotes | gene |
T155 | 1476-1493 | D015179 | denotes | colorectal cancer |
T156 | 1476-1493 | D015179 | denotes | colorectal cancer |
T157 | 1494-1507 | D063646 | denotes | tumorigenesis |
T158 | 1494-1507 | D063646 | denotes | tumorigenesis |
T159 | 1564-1567 | UBERON:0035973 | denotes | Inc |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
11317354-0#71#75#gene27030 | 71-75 | gene27030 | denotes | MLH3 |
11317354-0#110#128#diseaseC1527249 | 110-128 | diseaseC1527249 | denotes | colorectal cancers |
11317354-10#51#55#gene27030 | 1390-1394 | gene27030 | denotes | MLH3 |
11317354-10#137#154#diseaseC0009402 | 1476-1493 | diseaseC0009402 | denotes | colorectal cancer |
11317354-10#155#168#diseaseC0596263 | 1494-1507 | diseaseC0596263 | denotes | tumorigenesis |
11317354-8#13#17#gene27030 | 986-990 | gene27030 | denotes | MLH3 |
11317354-8#89#92#diseaseC0024814 | 1062-1065 | diseaseC0024814 | denotes | MSS |
71#75#gene27030110#128#diseaseC1527249 | 11317354-0#71#75#gene27030 | 11317354-0#110#128#diseaseC1527249 | associated_with | MLH3,colorectal cancers |
51#55#gene27030137#154#diseaseC0009402 | 11317354-10#51#55#gene27030 | 11317354-10#137#154#diseaseC0009402 | associated_with | MLH3,colorectal cancer |
51#55#gene27030155#168#diseaseC0596263 | 11317354-10#51#55#gene27030 | 11317354-10#155#168#diseaseC0596263 | associated_with | MLH3,tumorigenesis |
13#17#gene2703089#92#diseaseC0024814 | 11317354-8#13#17#gene27030 | 11317354-8#89#92#diseaseC0024814 | associated_with | MLH3,MSS |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 71-75 | gene:27030 | denotes | MLH3 |
T1 | 110-128 | disease:C1527249 | denotes | colorectal cancers |
T2 | 562-566 | gene:27030 | denotes | MLH3 |
T3 | 638-655 | disease:C0009402 | denotes | colorectal cancer |
T4 | 562-566 | gene:27030 | denotes | MLH3 |
T5 | 638-655 | disease:C1527249 | denotes | colorectal cancer |
T6 | 1169-1173 | gene:27030 | denotes | MLH3 |
T7 | 1236-1253 | disease:C1527249 | denotes | colorectal cancer |
T8 | 1169-1173 | gene:27030 | denotes | MLH3 |
T9 | 1236-1253 | disease:C0009402 | denotes | colorectal cancer |
R1 | T0 | T1 | associated_with | MLH3,colorectal cancers |
R2 | T2 | T3 | associated_with | MLH3,colorectal cancer |
R3 | T4 | T5 | associated_with | MLH3,colorectal cancer |
R4 | T6 | T7 | associated_with | MLH3,colorectal cancer |
R5 | T8 | T9 | associated_with | MLH3,colorectal cancer |