Disease ID | Disease name | Source of annotation with PCYT1A | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
608940 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PCYT1A |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Choline metabolism in cancer | hsa05231 | 6.09 |
Glycerophospholipid metabolism | hsa00564 | 6.15 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Metabolism | R-HSA-1430728 | 2.34 |
Glycerophospholipid biosynthesis | R-HSA-1483206 | 6.46 |
Synthesis of PC | R-HSA-1483191 | 8.73 |
Phospholipid metabolism | R-HSA-1483257 | 5.83 |
GO term | GO ID | GO IC |
---|---|---|
nucleotidyltransferase activity | GO:0016779 | 4.81 |
choline-phosphate cytidylyltransferase activity | GO:0004105 | 9.05 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
lipid binding | GO:0008289 | 3.26 |
cytidylyltransferase activity | GO:0070567 | 7.54 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
protein dimerization activity | GO:0046983 | 2.72 |
identical protein binding | GO:0042802 | 2.63 |
protein homodimerization activity | GO:0042803 | 3.16 |