PubMed:10615127
Annnotations
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 170-182 | HP_0003003 | denotes | colon cancer |
T2 | 170-182 | HP_0100273 | denotes | colon cancer |
T3 | 176-182 | HP_0002664 | denotes | cancer |
T4 | 1070-1076 | HP_0002664 | denotes | cancer |
PubMed_ArguminSci
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 59-208 | DRI_Background | denotes | Inherited mutations in the mismatch repair (MMR) genes MSH2 and MLH1 are found in most hereditary nonpolyposis colon cancer (HNPCC) patients studied. |
T2 | 209-426 | DRI_Background | denotes | Eukaryotic MMR uses two partially redundant mispair-recognition complexes, Msh2p-Msh6p and Msh2p-Msh3p (ref.2) Inactivation of MSH2 causes high rates of accumulation of both base-substitution and frameshift mutations. |
T3 | 427-669 | DRI_Background | denotes | Mutations in MSH6 or MSH3 cause partial defects in MMR, with inactivation of MSH6 resulting in high rates of base-substitution mutations and low rates of frameshift mutations; inactivation of MSH3 results in low rates of frameshift mutations. |
T4 | 670-842 | DRI_Background | denotes | These different mutator phenotypes provide an explanation for the observation that MSH2 mutations are common in HNPCC families, whereas mutations in MSH3 and MSH6 are rare. |
T5 | 843-994 | DRI_Approach | denotes | We have identified novel missense mutations in Saccharomyces cerevisiae MSH6 that appear to inactivate both Msh2p-Msh6p- and Msh2p-Msh3p-dependent MMR. |
T6 | 995-1134 | DRI_Outcome | denotes | Our work suggests that such mutations may underlie some cases of inherited cancer susceptibility similar to those caused by MSH2 mutations. |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
10615127-1#44#47#gene4360 | 103-106 | gene4360 | denotes | MMR |
10615127-1#64#68#gene4292 | 123-127 | gene4292 | denotes | MLH1 |
10615127-1#87#123#diseaseC1333990 | 146-182 | diseaseC1333990 | denotes | hereditary nonpolyposis colon cancer |
10615127-1#125#130#diseaseC1333990 | 184-189 | diseaseC1333990 | denotes | HNPCC |
10615127-1#87#123#diseaseC1333990 | 146-182 | diseaseC1333990 | denotes | hereditary nonpolyposis colon cancer |
10615127-1#125#130#diseaseC1333990 | 184-189 | diseaseC1333990 | denotes | HNPCC |
10615127-4#83#87#gene4436 | 753-757 | gene4436 | denotes | MSH2 |
10615127-4#112#117#diseaseC1333990 | 782-787 | diseaseC1333990 | denotes | HNPCC |
44#47#gene436087#123#diseaseC1333990 | 10615127-1#44#47#gene4360 | 10615127-1#87#123#diseaseC1333990 | associated_with | MMR,hereditary nonpolyposis colon cancer |
44#47#gene4360125#130#diseaseC1333990 | 10615127-1#44#47#gene4360 | 10615127-1#125#130#diseaseC1333990 | associated_with | MMR,HNPCC |
44#47#gene436087#123#diseaseC1333990 | 10615127-1#44#47#gene4360 | 10615127-1#87#123#diseaseC1333990 | associated_with | MMR,hereditary nonpolyposis colon cancer |
44#47#gene4360125#130#diseaseC1333990 | 10615127-1#44#47#gene4360 | 10615127-1#125#130#diseaseC1333990 | associated_with | MMR,HNPCC |
64#68#gene429287#123#diseaseC1333990 | 10615127-1#64#68#gene4292 | 10615127-1#87#123#diseaseC1333990 | associated_with | MLH1,hereditary nonpolyposis colon cancer |
64#68#gene4292125#130#diseaseC1333990 | 10615127-1#64#68#gene4292 | 10615127-1#125#130#diseaseC1333990 | associated_with | MLH1,HNPCC |
64#68#gene429287#123#diseaseC1333990 | 10615127-1#64#68#gene4292 | 10615127-1#87#123#diseaseC1333990 | associated_with | MLH1,hereditary nonpolyposis colon cancer |
64#68#gene4292125#130#diseaseC1333990 | 10615127-1#64#68#gene4292 | 10615127-1#125#130#diseaseC1333990 | associated_with | MLH1,HNPCC |
83#87#gene4436112#117#diseaseC1333990 | 10615127-4#83#87#gene4436 | 10615127-4#112#117#diseaseC1333990 | associated_with | MSH2,HNPCC |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 123-127 | gene:4292 | denotes | MLH1 |
T1 | 184-189 | disease:C1333990 | denotes | HNPCC |
T2 | 123-127 | gene:4292 | denotes | MLH1 |
T3 | 146-182 | disease:C1333990 | denotes | hereditary nonpolyposis colon cancer |
T4 | 114-118 | gene:4436 | denotes | MSH2 |
T5 | 184-189 | disease:C1333990 | denotes | HNPCC |
T6 | 103-106 | gene:4360 | denotes | MMR |
T7 | 146-182 | disease:C1333990 | denotes | hereditary nonpolyposis colon cancer |
T8 | 114-118 | gene:4436 | denotes | MSH2 |
T9 | 146-182 | disease:C1333990 | denotes | hereditary nonpolyposis colon cancer |
T10 | 103-106 | gene:4360 | denotes | MMR |
T11 | 184-189 | disease:C1333990 | denotes | HNPCC |
T12 | 753-757 | gene:4436 | denotes | MSH2 |
T13 | 782-787 | disease:C1333990 | denotes | HNPCC |
T14 | 1119-1123 | gene:4436 | denotes | MSH2 |
T15 | 1070-1076 | disease:C1306459 | denotes | cancer |
T16 | 1119-1123 | gene:4436 | denotes | MSH2 |
T17 | 1070-1076 | disease:C0006826 | denotes | cancer |
R1 | T0 | T1 | associated_with | MLH1,HNPCC |
R2 | T2 | T3 | associated_with | MLH1,hereditary nonpolyposis colon cancer |
R3 | T4 | T5 | associated_with | MSH2,HNPCC |
R4 | T6 | T7 | associated_with | MMR,hereditary nonpolyposis colon cancer |
R5 | T8 | T9 | associated_with | MSH2,hereditary nonpolyposis colon cancer |
R6 | T10 | T11 | associated_with | MMR,HNPCC |
R7 | T12 | T13 | associated_with | MSH2,HNPCC |
R8 | T14 | T15 | associated_with | MSH2,cancer |
R9 | T16 | T17 | associated_with | MSH2,cancer |