ATM, ATM serine/threonine kinase, 472
N. diseases: 684; N. variants: 974
Source: ALL
Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.050 | Biomarker | group | BEFREE | Considering the role of ATM in DNA damage response after radiation exposure, further studies are warranted to elucidate how 11q deletion and aberrations of ATM contribute to the pathogenesis of myelodysplastic syndromes after radiation exposure. | 31101757 | 2020 | ||||
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0.050 | GeneticVariation | group | BEFREE | We found that the rs228593, rs2267437 and rs1805388 functional polymorphisms probably alter the level of expression of the ATM, XRCC6 and LIG4 genes, respectively, being important in the maintenance of genomic instability in MDS. | 27497341 | 2016 | ||||
|
0.050 | GeneticVariation | group | BEFREE | In addition to the detection of mutations known to be associated with MDS in NRAS, KRAS, MPL, NPM1, IDH1, PTPN11, APC and MET, single nucleotide variants so far unrelated to MDS in STK11 (n=1), KDR (n=3), ATM (n=1) and JAK3 (n=2) were identified. | 24674452 | 2014 | ||||
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0.050 | AlteredExpression | group | BEFREE | Altogether, these results support the contention that constitutively active ATM accounts for the activation of NF-kappaB in high-risk MDS and AML. | 19079347 | 2009 | ||||
|
0.050 | Biomarker | group | BEFREE | Similarly, we found that the frequency of P-ATM(+) cells detectable in bone marrow (BM) biopsies increased in samples from patients with AML as compared with high-risk MDS samples and significantly correlated with the percentage of BM blasts. | 19398952 | 2009 | ||||
|
0.050 | Biomarker | group | LHGDN | Altogether, these results support the contention that constitutively active ATM accounts for the activation of NF-kappaB in high-risk MDS and AML. | 19079347 | 2009 |