CHST14, carbohydrate sulfotransferase 14, 113189

N. diseases: 89; N. variants: 13
Disease: Joint laxity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.300 Biomarker phenotype CTD_human Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. 20842734 2010