Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 9557
Gene Symbol: CHD1L
CHD1L 		chromodomain helicase DNA binding protein 1 like 0.631 0.577 1.0E-36
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1