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: 2517
Gene Symbol: FUCA1
FUCA1 		alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1