Source: GENOMICS_ENGLAND

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: 2592
Gene Symbol: GALT
GALT 		galactose-1-phosphate uridylyltransferase 0.612 0.654 2.1E-06
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		disease 0.800 strong 0.993 2 0 1970 2020
Entrez Id: 2592
Gene Symbol: GALT
GALT 		galactose-1-phosphate uridylyltransferase 0.612 0.654 2.1E-06
CUI: C0016952
Disease: Galactosemias
Galactosemias 		disease 0.800 None 0.963 1 0 1970 2019
Entrez Id: 2592
Gene Symbol: GALT
GALT 		galactose-1-phosphate uridylyltransferase 0.612 0.654 2.1E-06
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.420 strong 1.000 1 0 2008 2016
Entrez Id: 2592
Gene Symbol: GALT
GALT 		galactose-1-phosphate uridylyltransferase 0.612 0.654 2.1E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 strong 1.000 1 0 2016 2016