Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM MUTATION
ATM MUTATION - Associated Disease
- ataxia telangiectasia
- Source Database
- DisGeNET
- Description
- Loss of ataxia telangiectasia mutated (ATM) kinase, a key factor of the DNA damage response (DDR) pathway, causes the cancer predisposing and neurodegenerative syndrome ataxia-telangiectasia (A-T).
- Pubmed
- 25032865
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- 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