Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
0.110 GeneticVariation disease BEFREE Biallelic mutations in B3GALT6, encoding one of the linker region glycosyltransferases, are known to cause either spondyloepimetaphyseal dysplasia (SEMD) or a severe pleiotropic form of Ehlers-Danlos syndromes (EDS). 29931299 2018
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
0.110 Biomarker disease HPO