Disease ID | Disease name | Source of annotation with PSAT1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
610992 | PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PSAT1 |
PS256520 | NEU-LAXOVA SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | PHGDH, PSAT1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Glycine, serine and threonine metabolism | hsa00260 | 7.45 |
Vitamin B6 metabolism | hsa00750 | 10.18 |
Metabolic pathways | hsa01100 | 2.49 |
Biosynthesis of amino acids | hsa01230 | 6.58 |
Carbon metabolism | hsa01200 | 6.03 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
Serine biosynthesis | R-HSA-977347 | 11.4 |
Metabolism | R-HSA-1430728 | 2.34 |
Amino acid synthesis and interconversion (transamination) | R-HSA-70614 | 8.89 |
GO term | GO ID | GO IC |
---|---|---|
O-phospho-L-serine:2-oxoglutarate aminotransferase activity | GO:0004648 | 9.74 |
transaminase activity | GO:0008483 | 6.74 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring nitrogenous groups | GO:0016769 | 6.65 |
catalytic activity | GO:0003824 | 1.05 |