| Disease ID | Disease name | Source of annotation with PHGDH | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 601815 | PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PHGDH |
| 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 |
| Carbon metabolism | hsa01200 | 6.03 |
| Metabolic pathways | hsa01100 | 2.49 |
| Biosynthesis of amino acids | hsa01230 | 6.58 |
| 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 |
|---|---|---|
| coenzyme binding | GO:0050662 | 4.53 |
| oxidoreductase activity, acting on CH-OH group of donors | GO:0016614 | 4.83 |
| oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | GO:0016616 | 5.0 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| nucleotide binding | GO:0000166 | 1.96 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| NAD binding | GO:0051287 | 5.77 |
| phosphoglycerate dehydrogenase activity | GO:0004617 | 9.74 |
| oxidoreductase activity | GO:0016491 | 3.12 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| electron carrier activity | GO:0009055 | 4.97 |