POFUT2, protein O-fucosyltransferase 2, 23275

N. diseases: 6; N. variants: 0
Disease: Congenital Disorders of Glycosylation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.010 GeneticVariation group BEFREE Knockout of POFUT2 results in embryonic lethality in mice, and inactivating mutations in B3GLCT cause Peters plus syndrome, a congenital disorder of glycosylation in humans. 31463900 2020