Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM MUTATION
ATM MUTATION - Associated Disease
- Ataxia-telangiectasia-like disorder
- Source Database
- DisGeNET
- Description
- Western blot assay demonstrated total loss of MRE11 and reduction of ATM-dependent phosphorylation; thus, we diagnosed ATLD.
- Pubmed
- 24733832
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
Drugs