B4GALT3, beta-1,4-galactosyltransferase 3, 8703

N. diseases: 19; N. variants: 6
Disease: Glaucoma, Primary Open Angle ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 GeneticVariation disease BEFREE The mutations c.1456C < T (p.L486F) in MYOC and c.322G < A (p.V108I) in B4GALT3 are likely responsible for the pathogenesis of POAG in this family. 27900994 2016