ATR, ATR serine/threonine kinase, 545

N. diseases: 321; N. variants: 38
Disease: Primary microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.010 GeneticVariation disease BEFREE Here, we report the first case of primary microcephaly with compound heterozygous mutations in ATR: a 540 kb genomic deletion on one allele and a missense mutation leading to splice dysregulation on the other, which ultimately lead to a sharp decrease in ATR expression. 23111928 2013