Source: ALL

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 3 6 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 4 7 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 5 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
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		disease 0.110 None 1.000 1 0 2018 2018
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 1 0 2015 2015
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease 0.110 None 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: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1849025
Disease: Oval face
Oval face 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1849034
Disease: Hypoplastic iliac body
Hypoplastic iliac body 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1849063
Disease: Short iliac bones
Short iliac bones 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1849292
Disease: Advanced ossification of carpal bones
Advanced ossification of carpal bones 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C1833144
Disease: Slender long bone
Slender long bone 		phenotype 0.100 None 0 0