ATR, ATR serine/threonine kinase, 545

N. diseases: 321; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.120 GeneticVariation phenotype BEFREE DNA-PKcs links to the ATM/ATR module and defects cause hyper-resection and hyperactivation of G<sub>2</sub>-checkpoint at all doses examined. 31601897 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.120 GeneticVariation phenotype BEFREE Loss-of-function mutations in IRC21, PPM1, and PP2A and hyperactive tap42 alleles rescue mec1 mutants. 28648781 2017
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.120 Biomarker phenotype HPO