Disease ID | Disease name | Source of annotation with EOGT | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS100300 | ADAMS-OLIVER SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | NOTCH1, DLL4, EOGT, DOCK6, RBPJ, ARHGAP31 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Other types of O-glycan biosynthesis | hsa00514 | 7.72 |
GO term | GO ID | GO IC |
---|---|---|
protein N-acetylglucosaminyltransferase activity | GO:0016262 | 8.64 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
acetylglucosaminyltransferase activity | GO:0008375 | 5.85 |
UDP-glycosyltransferase activity | GO:0008194 | 4.81 |