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ataxia telangiectasia
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
RNF170
MRE11
ATM
ALDH1A1
FHL1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
cellular response to stress
regulation of cellular component organization
positive regulation of protein metabolic process
cell cycle
regulation of phosphorus metabolic process
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Curated Studies
Most Correlated Studies
Induced pluripotent stem cells and neural progenitor cells from ataxia telangiectasia cell lines
Cerebella from patients with ataxia-telangiectasia syndrome
Induced pluripotent stem cells derived from fibroblasts of ataxia-telangiectasia patients
Neural progenitor cells from iPSC of ataxia-telangiectasia patients with ATM mutation
An induced pluripotent stem cell model for ataxia telangiectasia
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Literature
Most Relevant Literature
The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence.
Therapeutic Options Targeting the Ataxia-Telangiectasia Mutated (ATM)-mediated DNA Damage Response, …
Reduced expression of phosphorylated ataxia-telangiectasia mutated gene is related to poor prognosis…
Variant ataxia telangiectasia identified during evaluation for short stature.
Mechanisms Underlying the Suppression of Chromosome Rearrangements by Ataxia-Telangiectasia Mutated.
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Clinical Trials
Most Relevant Clinical Trials
Body Composition and Hormonal Status in Ataxia Telangiectasia
Susceptibility to Infections in Ataxia Telangiectasia
MBM-01 (Tempol) for the Treatment of Ataxia Telangiectasia
Treatment of Leukemia and Lymphoma in Children With Ataxia Telangiectasia
NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
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