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: 145173
Gene Symbol: B3GLCT
B3GLCT 		beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		disease 0.700 strong 0.933 6 0 2006 2019
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 1.000 1 0 2008 2008