2.4.1.50 Carcinoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6806961&form=6&db=m Galactosyltransferase II: role in the diagnosis of pancreatic carcinoma. causal interaction,diagnostic usage,unassigned 4,4,0 2.4.1.50 Carcinoma, Hepatocellular http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20470363&form=6&db=m 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 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27320698&form=6&db=m 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 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30412317&form=6&db=m Biallelic COLGALT1 variants are associated with cerebral small vessel disease. causal interaction,unassigned 3,0 2.4.1.50 Congenital Abnormalities http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23664117&form=6&db=m 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 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23664117&form=6&db=m 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 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23664118&form=6&db=m 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 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23664117&form=6&db=m 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 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24766538&form=6&db=m 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 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29443383&form=6&db=m 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