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Results 1 - 10 of 59 > >>
EC Number Disease PubMed ID Title of Publication Category Confidence Level
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.50Carcinoma 6806961 Galactosyltransferase II: role in the diagnosis of pancreatic carcinoma. causal interaction
diagnostic usage
unassigned
4
4
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.50Carcinoma, 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
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.50Cataract 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
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.50Cerebral Small Vessel Diseases 30412317 Biallelic COLGALT1 variants are associated with cerebral small vessel disease. causal interaction
unassigned
3
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.50Congenital 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
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.50Connective 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
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.50Contracture 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
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.50Ehlers-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
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.50Ehlers-Danlos Syndrome 24766538 Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.50Ehlers-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
Results 1 - 10 of 59 > >>