Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
0.300 Biomarker GENOMICS_ENGLAND Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. 23664118

2013