Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
CUI: C3809210
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 		0.700 Biomarker GENOMICS_ENGLAND The Ehlers-Danlos syndromes, rare types. 28306225

2017
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
CUI: C3809210
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 		0.700 Biomarker GENOMICS_ENGLAND Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. 23664118

2013
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
CUI: C3809210
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 		0.700 Biomarker GENOMICS_ENGLAND