Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.080 Biomarker disease BEFREE Using quantitative PCR, we found that MIR promoted the expression levels of ATM (ataxia telangiectasia mutated), ATR (ataxia-telangiectasia and Rad3-related and Rad3-related), TP53 (tumor protein p53), p21 (CDKN1A, cyclin-dependent kinase inhibitor 1A) and GADD45 (growth arrest and DNA-damage inducible), but decreased the expression levels of cyclin B coding genes, CCNB1 and CCNB2, as well as CDK1 (Cyclin-dependent kinase 1). 23335992 2013
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.080 Biomarker disease BEFREE Herein we used single-cell observation methods to gain insight into the roles of p16(INK4A) and p21(WAF1) (hereafter p16 and p21) in replicative senescence and ionizing radiation-induced accelerated senescence in human [normal, ataxia telangiectasia (AT) and Li-Fraumeni syndrome (LFS)] fibroblast strains. 20039273 2010
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.080 PosttranslationalModification disease LHGDN ATM phosphorylates ZBP-89 at Ser202 to potentiate p21waf1 induction by butyrate. 17560543 2007
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.080 GeneticVariation disease LHGDN Recruitment of ataxia-telangiectasia mutated to the p21(waf1) promoter by ZBP-89 plays a role in mucosal protection. 16952553 2006
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.080 AlteredExpression disease BEFREE Besides the p21(WAF1) promoter, activation of topoisomerase IIIalpha and SV40 promoters by the HDAC inhibitors are also decreased in the AT cell lines relative to WT cells; thus, these findings pertain to other promoters. 12782595 2003
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.080 Biomarker disease BEFREE Mutation of other components of this pathway, including the products of the ataxia telangiectasia (AT), GADD45, mdm2, and p21WAF1/CIP1 genes may have effects comparable to mutations in the p53 gene. 8834260 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.080 Biomarker disease BEFREE DNA-PK activity however was not found to be related to the transcriptional induction of WAFl/CIP1(p2l) in AT lymphoblastoid cell lines, following treatment with ionizing radiation. 8808686 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.080 AlteredExpression disease BEFREE The increase of WAF1/CIP1(p21) and GADD45 mRNA, two genes transcriptionally activated by p53, was also reduced in the AT cell lines after such treatment. 7478567 1995