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 2.4.1.50 Ehlers-Danlos Syndrome http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29931299&form=6&db=m Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. causal interaction,unassigned 2,0 2.4.1.50 Ehlers-Danlos Syndrome http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31438591&form=6&db=m 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 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34159694&form=6&db=m Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. causal interaction,unassigned 3,0 2.4.1.50 Fatty Liver http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33865898&form=6&db=m 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 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33865898&form=6&db=m 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 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 Hepatitis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30355948&form=6&db=m 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 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3008388&form=6&db=m Serum and liver enzymes of collagen synthesis in hepatic murine schistosomiasis mansoni. ongoing research,unassigned 2,0 2.4.1.50 Intellectual Disability 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 Intellectual Disability 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 Joint Dislocations 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 Joint Instability 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 Joint Instability http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28649518&form=6&db=m Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations. causal interaction,therapeutic application,unassigned 4,1,0 2.4.1.50 Joint Instability 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 2.4.1.50 Joint Instability http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31614862&form=6&db=m Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6. causal interaction,unassigned 1,0 2.4.1.50 Joint Instability http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34159694&form=6&db=m Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. causal interaction,unassigned 3,0 2.4.1.50 Kashin-Beck Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32517548&form=6&db=m 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 Leukemia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33590792&form=6&db=m Identification of novel lipid droplet factors that regulate lipophagy and cholesterol efflux in macrophage foam cells. unassigned - 2.4.1.50 Leukemia, T-Cell http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33590792&form=6&db=m Identification of novel lipid droplet factors that regulate lipophagy and cholesterol efflux in macrophage foam cells. unassigned - 2.4.1.50 Lipodystrophy http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33865898&form=6&db=m 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 Muscle Hypotonia 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 Muscle Hypotonia 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 Muscle Hypotonia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31614862&form=6&db=m Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6. causal interaction,unassigned 1,0 2.4.1.50 Muscular Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31101663&form=6&db=m Loss of function of Colgalt1 disrupts collagen post-translational modification and causes musculoskeletal defects. ongoing research,unassigned 4,0 2.4.1.50 Muscular Dystrophies http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31101663&form=6&db=m Loss of function of Colgalt1 disrupts collagen post-translational modification and causes musculoskeletal defects. ongoing research,unassigned 4,0 2.4.1.50 Neoplasm Metastasis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32523950&form=6&db=m Exosomes Secreted by Adipose-Derived Mesenchymal Stem Cells Foster Metastasis and Osteosarcoma Proliferation by Increasing COLGALT2 Expression. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,3,2,1 2.4.1.50 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3145303&form=6&db=m Tissue polypeptide antigen, galactosyltransferase isoenzyme II and pancreatic oncofetal antigen serum determination: role in pancreatic cancer diagnosis. diagnostic usage,ongoing research,unassigned 4,4,0 2.4.1.50 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28722770&form=6&db=m Asbestos-associated genome-wide DNA methylation changes in lung cancer. unassigned - 2.4.1.50 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32489319&form=6&db=m Nine glycolysis-related gene signature predicting the survival of patients with endometrial adenocarcinoma. causal interaction,diagnostic usage,unassigned 3,2,0 2.4.1.50 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32523950&form=6&db=m Exosomes Secreted by Adipose-Derived Mesenchymal Stem Cells Foster Metastasis and Osteosarcoma Proliferation by Increasing COLGALT2 Expression. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,3,2,1 2.4.1.50 Non-alcoholic Fatty Liver Disease http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33865898&form=6&db=m 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 Obesity http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28428430&form=6&db=m Collagen beta (1-O) galactosyltransferase 1 (GLT25D1) is required for the secretion of high molecular weight adiponectin and affects lipid accumulation. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,2,4,4 2.4.1.50 Osteoarthritis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32517548&form=6&db=m 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 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33760386&form=6&db=m Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis. unassigned - 2.4.1.50 Osteosarcoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27402836&form=6&db=m Collagen Accumulation in Osteosarcoma Cells lacking GLT25D1 Collagen Galactosyltransferase. ongoing research,unassigned 4,0 2.4.1.50 Osteosarcoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32523950&form=6&db=m Exosomes Secreted by Adipose-Derived Mesenchymal Stem Cells Foster Metastasis and Osteosarcoma Proliferation by Increasing COLGALT2 Expression. causal interaction,diagnostic usage,ongoing research,therapeutic application 4,3,2,1 2.4.1.50 Ovarian Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33783989&form=6&db=m COLGALT2 is overexpressed in ovarian cancer and interacts with PLOD3. causal interaction,unassigned 3,0 2.4.1.50 Pancreatic Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3145303&form=6&db=m Tissue polypeptide antigen, galactosyltransferase isoenzyme II and pancreatic oncofetal antigen serum determination: role in pancreatic cancer diagnosis. diagnostic usage,ongoing research,unassigned 4,4,0 2.4.1.50 Pancreatic Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6790994&form=6&db=m Galactosyltransferase II in detection of pancreatic cancer. diagnostic usage,unassigned 4,0 2.4.1.50 Pancreatitis, Chronic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3145303&form=6&db=m Tissue polypeptide antigen, galactosyltransferase isoenzyme II and pancreatic oncofetal antigen serum determination: role in pancreatic cancer diagnosis. diagnostic usage,ongoing research,unassigned 4,4,0 2.4.1.50 Porencephaly http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30822656&form=6&db=m Collagen glycosylation. causal interaction,unassigned 4,0 2.4.1.50 Porencephaly http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33709034&form=6&db=m Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report. causal interaction,unassigned 2,0 2.4.1.50 procollagen galactosyltransferase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33865898&form=6&db=m 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 Pulmonary Fibrosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=6200953&form=6&db=m Enzymes of collagen synthesis in lung tissues of bleomycin-induced pulmonary fibrosis. unassigned - 2.4.1.50 Refractive Errors 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 Retinal Detachment 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 Retinoblastoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33590792&form=6&db=m Identification of novel lipid droplet factors that regulate lipophagy and cholesterol efflux in macrophage foam cells. unassigned - 2.4.1.50 Sarcoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33590792&form=6&db=m Identification of novel lipid droplet factors that regulate lipophagy and cholesterol efflux in macrophage foam cells. unassigned - 2.4.1.50 Strabismus 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