RERE, arginine-glutamic acid dipeptide repeats, 473

N. diseases: 215; N. variants: 48
Disease: Congenital defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.010 Biomarker group BEFREE Animal models suggest that RERE deficiency might contribute to many of the structural and developmental birth defects and medical problems seen in individuals with 1p36 deletion syndrome, although human evidence supporting this role has been lacking. 27087320 2016