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: 2564
Gene Symbol: GABRE
GABRE 		gamma-aminobutyric acid type A receptor subunit epsilon 0.839 0.231 1.8E-04
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1