Disease #00008

Official abbreviation -
Name in vitro
OMIM ID -
Individuals reported having this disease 1171
Phenotype entries for this disease 1098
Associated with 1 gene MSH3
Associated tissues -
Disease features -
Remarks -


Individuals

1171 entries on 12 pages. Showing entries 1 - 100.
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00002051 - - - - InSiGHT LOVDv2 ID:1017072; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002052 - - - - InSiGHT LOVDv2 ID:1017073; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002053 - - - - InSiGHT LOVDv2 ID:1017074; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002054 - - - - InSiGHT LOVDv2 ID:1017075; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002055 - - - - InSiGHT LOVDv2 ID:1017076; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002056 - - - - InSiGHT LOVDv2 ID:1017077; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002057 - - - - InSiGHT LOVDv2 ID:1017078; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002058 - - - - InSiGHT LOVDv2 ID:1017079; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002059 - - - - InSiGHT LOVDv2 ID:1017080; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002060 - - - - InSiGHT LOVDv2 ID:1017081; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002061 - - - - InSiGHT LOVDv2 ID:1017082; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002062 - - - - InSiGHT LOVDv2 ID:1017083; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002063 - - - - InSiGHT LOVDv2 ID:1017084; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002064 - - - - InSiGHT LOVDv2 ID:1017085; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002065 - - - - InSiGHT LOVDv2 ID:1017087; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002066 - - - - InSiGHT LOVDv2 ID:1017088; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002067 - - - - InSiGHT LOVDv2 ID:1017086; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002068 - - - - InSiGHT LOVDv2 ID:1017089; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002069 - - - - InSiGHT LOVDv2 ID:1017090; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002070 - - - - InSiGHT LOVDv2 ID:1017091; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 InSiGHT group
00002246 - ? - - InSiGHT LOVDv2 ID:16060; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 Rolf Sijmons
00002258 - ? - - InSiGHT LOVDv2 ID:25576; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro This mutated variant repairs mismatches as wild type MSH6 protein, but the expression level is poor due to its stability MSH6 MSH6 1 1 Rolf Sijmons
00002516 - ? - - InSiGHT LOVDv2 ID:11227; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 Rolf Sijmons
00003022 - ? - - InSiGHT LOVDv2 ID:16065; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro according IP result, the amount of mutant protein does not decrease MSH6 MSH6 1 1 Rolf Sijmons
00003023 - ? - - InSiGHT LOVDv2 ID:16066; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro in this postision, the amino acid is conserved in human, mouse, E-coli and Drosphila, but not in S.cerevisiae MSH6 MSH6 1 1 Rolf Sijmons
00003075 - ? - - InSiGHT LOVDv2 ID:16068; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 Rolf Sijmons
00003077 - ? - - InSiGHT LOVDv2 ID:25607; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 Rolf Sijmons
00003225 - ? - - InSiGHT LOVDv2 ID:25610; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro the mutation seems only to be identified by cell line, not in the patient MSH6 MSH6 1 1 Rolf Sijmons
00003498 - ? - - InSiGHT LOVDv2 ID:16074; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 Rolf Sijmons
00003499 - ? - - InSiGHT LOVDv2 ID:16075; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro This individ. mutation isn't def. in MMR, but due to unavailability of a MSH2/MSH6 deficient cell line, a compound effect of combined MSH2 and MSH6 missense mutations could not be investigated MSH6 MSH6 1 1 Rolf Sijmons
00003500 - ? - - InSiGHT LOVDv2 ID:16076; This data has been transferred from InSiGHT LOVDv2 database. - - - in vitro - MSH6 MSH6 1 1 Rolf Sijmons
00003523 Tricarico et al., under revision - - - - - - - in vitro - MLH1 MLH1 1 1 Alexandra Martins
00003525 Tricarico et al., under revision - - - - - - - in vitro - MLH1 MLH1 1 1 Alexandra Martins
00003526 Ward et al. (2013) - - - - - - - in vitro - MLH1 MLH1 1 1 Robyn Ward
00003527 Ward et al. (2013) - - - - - - - in vitro - MLH1 MLH1 1 1 Robyn Ward
00003528 Ward et al. (2013) - - - - - - - in vitro - MLH1 MLH1 1 1 Robyn Ward
00003529 Ward et al. (2013) - - - - - - - in vitro - MLH1 MLH1 1 1 Robyn Ward
00003530 Tricarico et al., under revision - - - - - - - in vitro - MLH1 MLH1 1 1 Alexandra Martins
00003531 Tricarico et al., under revision - - - - - - - in vitro - MLH1 MLH1 1 1 Alexandra Martins
00003532 Tricarico et al., under revision - - - - - - - in vitro - MLH1 MLH1 1 1 Alexandra Martins
00003533 Tricarico et al., under revision - - - - - - - in vitro - MLH1 MLH1 1 1 Alexandra Martins
00003535 Tricarico et al., under revision - - - - - - - in vitro - MLH1 MLH1 1 1 Alexandra Martins
00003536 Tricarico et al., under revision - - - - - - - in vitro - MLH1 MLH1 1 1 Alexandra Martins
00003537 Tricarico et al., under revision - - - - - - - in vitro - MLH1 MLH1 1 1 Alexandra Martins
00003538 Tricarico et al., under revision - - - - - - - in vitro - MLH1 MLH1 1 1 Alexandra Martins
00003539 Tricarico et al., under revision - - - - - - - in vitro - MLH1 MLH1 1 1 Alexandra Martins
00003611 Tricarico et al., under revision - - - - - - - in vitro - MSH2 MSH2 1 1 Alexandra Martins
00003612 Tricarico et al., under revision - - - - - - - in vitro - MSH2 MSH2 2 1 Alexandra Martins
00003636 Tournier et al., 2008,Tricarico et al., under revision - - - - - - - in vitro - MSH2 MSH2 2 1 Alexandra Martins
00003637 Tricarico et al., under revision - - - - - - - in vitro - MSH2 MSH2 1 1 Alexandra Martins
00003638 Tricarico et al., under revision - - - - - - - in vitro - MSH2 MSH2 1 1 Alexandra Martins
00003708 Tricarico et al., under revision - - - - - - - in vitro - MSH2 MSH2 2 1 Alexandra Martins
00003709 Tricarico et al., under revision - - - - - - - in vitro - MSH2 MSH2 1 1 Alexandra Martins
00003710 Alexandra Martins Research Group ("RNA and Genetic Diseases", Inserm U1079, Rouen, France), unpublished - - - - - - - in vitro - MSH2 MSH2 3 1 Alexandra Martins
00003711 Alexandra Martins Research Group ("RNA and Genetic Diseases", Inserm U1079, Rouen, France) described as data not shown in Tricarico et al., under revision - - - - - - - in vitro - MSH2 MSH2 2 4 Alexandra Martins
00017319 - ? - - InSiGHT LOVDv2 ID:1003284; - - - in vitro AA-sub in yeast A41F. The assay is based on instability of 33 bp (GT)16 tract which is ins. in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017320 - ? - - InSiGHT LOVDv2 ID:1003285; - - - in vitro AA-sub in yeast A694T. The assay is based on instability of 33 bp (GT)16 tract which is inserted in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017321 - ? - - InSiGHT LOVDv2 ID:1003286; - - - in vitro AA-sub in yeast E99K. The assay is based on instability of 33 bp (GT)16 tract which is inserted in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017322 - ? - - InSiGHT LOVDv2 ID:1003287; - - - in vitro AA-sub in yeast G64R. The assay is based on instability of 33 bp (GT)16 tract which is inserted in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017323 - ? - - InSiGHT LOVDv2 ID:1003288; - - - in vitro AA-sub in yeast I104R. The assay is based on instability of 33 bp (GT)16 tract which is inserted in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017324 - ? - - InSiGHT LOVDv2 ID:1003289; - - - in vitro AA-sub in yeast I216V. The assay is based on instability of 33 bp (GT)16 tract which is inserted in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017325 - ? - - InSiGHT LOVDv2 ID:1003290; - - - in vitro AA-sub in yeast I326A. The assay is based on instability of 33 bp (GT)16 tract which is inserted in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017326 - ? - - InSiGHT LOVDv2 ID:1003291; - - - in vitro AA-sub in yeast I65N. The assay is based on instability of 33 bp (GT)16 tract which is inserted in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017327 - ? - - InSiGHT LOVDv2 ID:1003292; - - - in vitro AA-sub in yeast Q552L. The assay is based on instability of 33 bp (GT)16 tract which is inserted in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017328 - ? - - InSiGHT LOVDv2 ID:1003293; - - - in vitro AA-sub in yeast R214C. The assay is based on instability of 33 bp (GT)16 tract which is inserted in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017329 - ? - - InSiGHT LOVDv2 ID:1003294; - - - in vitro AA-sub in yeast R265C. The assay is based on instability of 33 bp (GT)16 tract which is inserted in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017330 - ? - - InSiGHT LOVDv2 ID:1003295; - - - in vitro AA-sub in yeast R265H. The assay is based on instability of 33 bp (GT)16 tract which is inserted in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017331 - ? - - InSiGHT LOVDv2 ID:1003296; - - - in vitro AA-sub in yeast R672P. The assay is based on instability of 33 bp (GT)16 tract which is inserted in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017332 - ? - - InSiGHT LOVDv2 ID:1003297; - - - in vitro AA-sub in yeast T114R. The assay is based on instability of 33 bp (GT)16 tract which is inserted in-frame in the 5' end of the yeast URA3 gene coding region in plasmid pSH91. FAO-plates to quantitate ura3 mutants; Uracil allows growth new ura3 mutants. MLH1 MLH1 1 1 Rolf Sijmons
00017336 - ? - - InSiGHT LOVDv2 ID:1003301; - - - in vitro between condon 727 and condon 728.there are 4 nuclotide were deleted and lead to frameshift .all are located in exon 19 MLH1 MLH1 1 1 Rolf Sijmons
00017337 - ? - - InSiGHT LOVDv2 ID:1003302; - - - in vitro compared the rate of Lys+,His+ or Canr in haploid yeast strain containing this mutation with that of wild type or MLH1 deleted mutant ; showed that the mutant retains partial MLH1 function MLH1 MLH1 1 1 Rolf Sijmons
00017338 - ? - - InSiGHT LOVDv2 ID:1003303; - - - in vitro corresponding mutation in yeast gene is A41G; mutation has not been reported in clinical patients (based on datebase of The International Society for Gastrointestinal Hereditary-www.insight-group.org) - - 0 1 Rolf Sijmons
00017448 - ? - - InSiGHT LOVDv2 ID:1003413; - - - in vitro HCT116 MLH1 deficient colon cancer cell line transfected with mutated human MLH1 containing plasmid. MLH1 MLH1 1 1 Rolf Sijmons
00017449 - ? - - InSiGHT LOVDv2 ID:1003414; - - - in vitro HCT116 MLH1 deficient colon cancer cell line transfected with mutated human MLH1 containing plasmid. MLH1 MLH1 1 1 Rolf Sijmons
00017450 - ? - - InSiGHT LOVDv2 ID:1003415; - - - in vitro HCT116 MLH1 deficient colon cancer cell line transfected with mutated human MLH1 containing plasmid. MLH1 MLH1 1 1 Rolf Sijmons
00017451 - ? - - InSiGHT LOVDv2 ID:1003416; - - - in vitro HCT116 MLH1 deficient colon cancer cell line transfected with mutated human MLH1 containing plasmid. MLH1 protein decay was measured after cycloheximide treatment (a global inhibitor of de novo protein synthesis) MLH1 MLH1 1 1 Rolf Sijmons
00017452 - ? - - InSiGHT LOVDv2 ID:1003417; - - - in vitro HCT116 MLH1 deficient colon cancer cell line transfected with mutated human MLH1 containing plasmid. MLH1 protein decay was measured after cycloheximide treatment (a global inhibitor of de novo protein synthesis) MLH1 MLH1 1 1 Rolf Sijmons
00017453 - ? - - InSiGHT LOVDv2 ID:1003418; - - - in vitro HCT116 MLH1 deficient colon cancer cell line transfected with mutated human MLH1 containing plasmid. MLH1 protein decay was measured after cycloheximide treatment (a global inhibitor of de novo protein synthesis) MLH1 MLH1 1 1 Rolf Sijmons
00017454 - ? - - InSiGHT LOVDv2 ID:1003419; - - - in vitro HCT116 MLH1 deficient colon cancer cell line transfected with mutated human MLH1 containing plasmid. Pull-down assay for MLH1-hPMS2. MLH1 MLH1 1 1 Rolf Sijmons
00017455 - ? - - InSiGHT LOVDv2 ID:1003420; - - - in vitro HCT116 MLH1 deficient colon cancer cell line transfected with mutated human MLH1 containing plasmid. Pull-down assay for MLH1-hPMS2. MLH1 MLH1 1 1 Rolf Sijmons
00017456 - ? - - InSiGHT LOVDv2 ID:1003421; - - - in vitro HCT116 MLH1 deficient colon cancer cell line transfected with mutated human MLH1 containing plasmid. Pull-down assay for MLH1-hPMS2. MLH1 MLH1 1 1 Rolf Sijmons
00017457 - ? - - InSiGHT LOVDv2 ID:1003422; - - - in vitro The corresponding mutation in yeast gene is C769A - - 0 1 Rolf Sijmons
00017458 - ? - - InSiGHT LOVDv2 ID:1003423; - - - in vitro The corresponding mutation in yeast gene is F96A - - 0 1 Rolf Sijmons
00017459 - ? - - InSiGHT LOVDv2 ID:1003424; - - - in vitro The corresponding mutation in yeast gene is G98V MLH1 MLH1 1 1 Rolf Sijmons
00017460 - ? - - InSiGHT LOVDv2 ID:1003425; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017461 - ? - - InSiGHT LOVDv2 ID:1003426; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017462 - ? - - InSiGHT LOVDv2 ID:1003427; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017463 - ? - - InSiGHT LOVDv2 ID:1003428; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017464 - ? - - InSiGHT LOVDv2 ID:1003429; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017465 - ? - - InSiGHT LOVDv2 ID:1003430; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017466 - ? - - InSiGHT LOVDv2 ID:1003431; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017467 - ? - - InSiGHT LOVDv2 ID:1003432; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017468 - ? - - InSiGHT LOVDv2 ID:1003433; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017469 - ? - - InSiGHT LOVDv2 ID:1003434; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017470 - ? - - InSiGHT LOVDv2 ID:1003435; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017471 - ? - - InSiGHT LOVDv2 ID:1003436; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017472 - ? - - InSiGHT LOVDv2 ID:1003437; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017473 - ? - - InSiGHT LOVDv2 ID:1003438; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017474 - ? - - InSiGHT LOVDv2 ID:1003439; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
00017475 - ? - - InSiGHT LOVDv2 ID:1003440; - - - in vitro hMLH1 transfected in S.Cerevisiae and exerts a dominant negative effect over yeast MLH1. LacZ, GFP and ADE2 reporter assays. MLH1 MLH1 1 1 Rolf Sijmons
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