Disease ID | Disease name | Source of annotation with PSPH | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
614023 | PHOSPHOSERINE PHOSPHATASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PSPH |
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 |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
metal ion binding | GO:0046872 | 1.41 |
phosphatase activity | GO:0016791 | 4.11 |
catalytic activity | GO:0003824 | 1.05 |
magnesium ion binding | GO:0000287 | 4.41 |
cation binding | GO:0043169 | 1.4 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
phosphoserine phosphatase activity | GO:0004647 | 8.35 |
phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
protein homodimerization activity | GO:0042803 | 3.16 |
calcium ion binding | GO:0005509 | 3.17 |
protein binding | GO:0005515 | 0.46 |
protein dimerization activity | GO:0046983 | 2.72 |
ion binding | GO:0043167 | 1.36 |
identical protein binding | GO:0042802 | 2.63 |
binding | GO:0005488 | 0.18 |