Disease ID | Disease name | Source of annotation with C1GALT1C1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
300622 | TN POLYAGGLUTINATION SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | C1GALT1C1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Mucin type O-Glycan biosynthesis | hsa00512 | 7.72 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Post-translational protein modification | R-HSA-597592 | 4.54 |
O-linked glycosylation of mucins | R-HSA-913709 | 6.98 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
O-linked glycosylation | R-HSA-5173105 | 6.3 |
GO term | GO ID | GO IC |
---|---|---|
protein binding | GO:0005515 | 0.46 |
glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity | GO:0016263 | 9.05 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
galactosyltransferase activity | GO:0008378 | 6.21 |
binding | GO:0005488 | 0.18 |
transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
beta-1,3-galactosyltransferase activity | GO:0048531 | 7.03 |