Disease ID | Disease name | Source of annotation with PGAP1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS249500 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar, OMIM | link to OMIM | 31 | ADAT3, NDST1, GPT2, PIGG, FMN2, TTI2, PGAP1, HNMT, EDC3, NSUN2, KPTN, GRIK2, TAF2, KIAA1033, MED23, PRSS12, FBXO31, LINS1, HERC2, CC2D1A, METTL23, TUSC3, ST3GAL3, TECR, CRADD, MAN1B1, SLC6A17, ANK3, CRBN, TRAPPC9, LMAN2L |
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 |
Post-translational protein modification | R-HSA-597592 | 4.54 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Attachment of GPI anchor to uPAR | R-HSA-162791 | 10.18 |
GO term | GO ID | GO IC |
---|---|---|
nuclease activity | GO:0004518 | 4.33 |
phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
catalytic activity | GO:0003824 | 1.05 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
hydrolase activity | GO:0016787 | 1.9 |