ATRIP, ATR interacting protein, 84126

N. diseases: 54; N. variants: 37
Disease: Cortical gyral simplification ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016