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

N. diseases: 75; N. variants: 5
Disease: Contracture of joint ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		0.010 GeneticVariation disease BEFREE Loss-of-function mutations in B3GAT3 are associated with a complex connective tissue phenotype characterized by disproportionate short stature, skeletal dysplasia, facial dysmorphism, spatulate distal phalanges and -to a lesser extent- joint contractures, joint hypermobility with dislocations, cardiac defects and bone fragility. 31196143 2019