CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Rothmund-Thomson syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		0.010 AlteredExpression disease BEFREE Cells depleted with RecQL4 or Rothmund-Thomson syndrome cells showed significant impairment in the activation of ATM and the downstream effector proteins such as checkpoint kinase 2 and p53 after DNA damage. 30594395 2019