ATR, ATR serine/threonine kinase, 545

N. diseases: 321; N. variants: 38
Disease: Coffin-Siris syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.010 AlteredExpression disease BEFREE The regulation of ATM/ATR is rendered non-functional in Schimke Immuno-Osseous Dysplasia where SMARCAL1 is mutated and in Coffin-Siris Syndrome where BRG1 is mutated. 30317028 2018