Disease ID | Disease name | Source of annotation with POFUT1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS179850 | RETICULATE PIGMENT DISORDERS | ClinVar, OMIM | link to OMIM | 5 | ADAM10, POFUT1, POGLUT1, ADAR, KRT5 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Other types of O-glycan biosynthesis | hsa00514 | 7.72 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Pre-NOTCH Expression and Processing | R-HSA-1912422 | 7.49 |
Signaling by NOTCH | R-HSA-157118 | 6.2 |
Signal Transduction | R-HSA-162582 | 1.78 |
Pre-NOTCH Processing in the Endoplasmic Reticulum | R-HSA-1912399 | 10.4 |
GO term | GO ID | GO IC |
---|---|---|
fucosyltransferase activity | GO:0008417 | 7.17 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
peptide-O-fucosyltransferase activity | GO:0046922 | 9.05 |
transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |