ATR, ATR serine/threonine kinase, 545

N. diseases: 321; N. variants: 38
Disease: Juberg-Marsidi syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.010 GeneticVariation disease BEFREE Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. 15508018 2005