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PubMed:10615127 JSONTXT

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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