B3GALT1, beta-1,3-galactosyltransferase 1, 8708

N. diseases: 3; N. variants: 6
Disease: Krause-Kivlin syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. 16909395 2006