EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.4.1.50 | Ehlers-Danlos Syndrome |
29931299 |
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. |
causal interaction
unassigned |
2
0 |
| 2.4.1.50 | Ehlers-Danlos Syndrome |
31438591 |
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. |
therapeutic application
unassigned |
1
0 |
| 2.4.1.50 | Ehlers-Danlos Syndrome |
34159694 |
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. |
causal interaction
unassigned |
3
0 |
| 2.4.1.50 | Fatty Liver |
33865898 |
Collagen ?(1-O) galactosyltransferase 2 deficiency contributes to lipodystrophy and aggravates NAFLD related to HMW adiponectin in mice. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
2
4
0 |
| 2.4.1.50 | Fetal Death |
33865898 |
Collagen ?(1-O) galactosyltransferase 2 deficiency contributes to lipodystrophy and aggravates NAFLD related to HMW adiponectin in mice. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
2
4
0 |
| 2.4.1.50 | Glaucoma |
27320698 |
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. |
causal interaction
unassigned |
4
0 |
| 2.4.1.50 | Hepatitis |
30355948 |
Glt25d2 Knockout Directly Increases CD25+CD69- but Decreases CD25-CD69+ Subset Proliferation and is Involved in Concanavalin-Induced Hepatitis. |
causal interaction
unassigned |
3
0 |
| 2.4.1.50 | Infections |
3008388 |
Serum and liver enzymes of collagen synthesis in hepatic murine schistosomiasis mansoni. |
ongoing research
unassigned |
2
0 |
| 2.4.1.50 | Intellectual Disability |
23664118 |
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos Syndrome-like Connective Tissue Disorder. |
causal interaction
unassigned |
3
0 |
| 2.4.1.50 | Intellectual Disability |
24766538 |
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. |
causal interaction
unassigned |
4
0 |
