B3GAT3, beta-1,3-glucuronyltransferase 3, 26229

N. diseases: 75; N. variants: 5
Disease: Instability of atlantooccipital joint ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410654
Disease: Instability of atlantooccipital joint
Instability of atlantooccipital joint 		0.010 GeneticVariation disease BEFREE He has bilateral inguinal hernias and atlanto-axial as well as atlanto-occipital instability that have not been previously associated with B3GAT3 mutations. 24668659 2014