B4GALT7, beta-1,4-galactosyltransferase 7, 11285

N. diseases: 79; N. variants: 9
Disease: Congenital ocular coloboma (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.010 GeneticVariation disease BEFREE Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. 27320698 2016