Disease ID | Disease name | Source of annotation with PIGL | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
280000 | COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PIGL |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Glycosylphosphatidylinositol(GPI)-anchor biosynthesis | hsa00563 | 8.07 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Post-translational modification: synthesis of GPI-anchored proteins | R-HSA-163125 | 8.28 |
Synthesis of glycosylphosphatidylinositol (GPI) | R-HSA-162710 | 8.89 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Post-translational protein modification | R-HSA-597592 | 4.54 |
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
deacetylase activity | GO:0019213 | 5.7 |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | GO:0016810 | 4.76 |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | GO:0016811 | 5.28 |
catalytic activity | GO:0003824 | 1.05 |
N-acetylglucosaminylphosphatidylinositol deacetylase activity | GO:0000225 | 9.74 |