B3GALT4, beta-1,3-galactosyltransferase 4, 8705

N. diseases: 9; N. variants: 0
Disease: Maturation defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334070
Disease: Maturation defect
Maturation defect 		0.010 GeneticVariation phenotype BEFREE Inactivating mutations in the GALT-II gene (B3GALT6) associated with Ehlers-Danlos syndrome cause proteoglycan maturation defects similar to FAM20B deletion. 25331875 2014