Disease ID | Disease name | Source of annotation with PIGA | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS614080 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | PIGT, PIGN, PIGA |
PS300818 | PAROXYSMAL NOCTURNAL HEMOGLOBINURIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | PIGT, PIGA |
PS308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 37 | KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA |
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 |
---|---|---|
phosphatidylinositol N-acetylglucosaminyltransferase activity | GO:0017176 | 8.13 |
protein binding | GO:0005515 | 0.46 |
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 |
UDP-glycosyltransferase activity | GO:0008194 | 4.81 |