Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C3809210
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 		disease 0.700 None 1.000 2 0 2013 2017
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		disease 0.620 None 1.000 2 0 2013 2018
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		disease 0.500 strong 1.000 1 0 2013 2013
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		disease 0.350 strong 1.000 0 0 2013 2018
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 strong 1.000 1 0 2013 2013