Disease ID | Disease name | Source of annotation with LFNG | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS277300 | SPONDYLOCOSTAL DYSOSTOSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | HES7, MESP2, RIPPLY2, DLL3, TBX6, LFNG |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Notch signaling pathway | hsa04330 | 7.12 |
Other types of O-glycan biosynthesis | hsa00514 | 7.72 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Pre-NOTCH Processing in Golgi | R-HSA-1912420 | 8.81 |
Pre-NOTCH Expression and Processing | R-HSA-1912422 | 7.49 |
Signal Transduction | R-HSA-162582 | 1.78 |
Signaling by NOTCH | R-HSA-157118 | 6.2 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
metal ion binding | GO:0046872 | 1.41 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
acetylglucosaminyltransferase activity | GO:0008375 | 5.85 |
O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity | GO:0033829 | 8.64 |
UDP-glycosyltransferase activity | GO:0008194 | 4.81 |