EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
   2.4.1.50 | Ehlers-Danlos Syndrome |
29443383 |
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some ?3GalT6-pathy mutations. |
causal interaction
unassigned |
3
0 |
| 2.4.1.50 | Joint Instability |
29443383 |
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some ?3GalT6-pathy mutations. |
causal interaction
unassigned |
3
0 |
| 2.4.1.50 | Kashin-Beck Disease |
32517548 |
Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease. |
causal interaction
diagnostic usage
unassigned |
2
1
0 |
| 2.4.1.50 | Osteoarthritis |
32517548 |
Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease. |
causal interaction
diagnostic usage
unassigned |
2
1
0 |
| 2.4.1.50 | Neoplasms |
28722770 |
Asbestos-associated genome-wide DNA methylation changes in lung cancer. |
unassigned |
0 |
| 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 | Cerebral Small Vessel Diseases |
30412317 |
Biallelic COLGALT1 variants are associated with cerebral small vessel disease. |
causal interaction
unassigned |
3
0 |
| 2.4.1.50 | Porencephaly |
33709034 |
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report. |
causal interaction
unassigned |
2
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 | Joint Instability |
34159694 |
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. |
causal interaction
unassigned |
3
0 |
