Annotation Detail

Information
Associated Genes
ATM
Associated Variants
ATM MUTATION
ATM MUTATION
Associated Disease
ataxia telangiectasia
Source Database
DisGeNET
Description
High-throughput screens using ATM promoter activation will be helpful for therapeutic development in DNA damage-associated abnormal ATM signaling in various cell types and organs.
Pubmed
24927134
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
9
Original source reporting the Gene Disease association
BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT
DisGENET score for the Gene Disease association
0.708689196720956
Drugs