ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.520 Biomarker group CTD_human Loss-of-function variants in ATM confer risk of gastric cancer. 26098866 2015
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.520 AlteredExpression group BEFREE In order to determine the mutation and mRNA expression changes of the ATM gene in HGC, we performed analyses by denaturing high-performance liquid chromatography (DHPLC), DNA sequencing and RT-PCR technique on 13 human gastric tumor cell lines and 30 cases of fresh tumor specimens matched normal tissue. 14706517 2004
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.520 GeneticVariation group BEFREE We analyzed stomach tumors with microsatellite instability (MSI) for frameshift mutations in several potential targets of the mutator phenotype involved in DNA damage-response pathways, such as the ataxia telangiectasia mutated protein-related protein (ATR)-CHK1-Cdc25c pathway, and DNA repair. 11691784 2001
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.520 GenomicAlterations group CGI
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.520 CausalMutation group CGI