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

N. diseases: 79; N. variants: 9
Disease: Skin Abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.010 GeneticVariation group BEFREE However, he also has developmental delay, a refractive errors, dental defects, pectus carinatum, and skin abnormalities that have only been associated with linkeropathies caused by mutations in B4GALT6 and B4GALT7. 24668659 2014