EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
2.4.1.50 | Carcinoma |
6806961 |
Galactosyltransferase II: role in the diagnosis of pancreatic carcinoma. |
causal interaction diagnostic usage unassigned |
4 4 0 |
2.4.1.50 | Carcinoma, Hepatocellular |
20470363 |
The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein. |
diagnostic usage ongoing research unassigned |
3 2 0 |
2.4.1.50 | Cataract |
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 | Cerebral Small Vessel Diseases |
30412317 |
Biallelic COLGALT1 variants are associated with cerebral small vessel disease. |
causal interaction unassigned |
3 0 |
2.4.1.50 | Congenital Abnormalities |
23664117 |
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders. |
causal interaction unassigned |
4 0 |
2.4.1.50 | Connective Tissue Diseases |
23664117 |
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders. |
causal interaction unassigned |
4 0 |
2.4.1.50 | Contracture |
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 | Ehlers-Danlos Syndrome |
23664117 |
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders. |
causal interaction unassigned |
4 0 |
2.4.1.50 | Ehlers-Danlos Syndrome |
24766538 |
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. |
causal interaction unassigned |
4 0 |
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 |