Disease ID | Disease name | Source of annotation with GAMT | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS300352 | CEREBRAL CREATINE DEFICIENCY SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | GAMT, GATM, SLC6A8 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Glycine, serine and threonine metabolism | hsa00260 | 7.45 |
Metabolic pathways | hsa01100 | 2.49 |
Arginine and proline metabolism | hsa00330 | 6.84 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
Creatine metabolism | R-HSA-71288 | 9.66 |
Metabolism | R-HSA-1430728 | 2.34 |
GO term | GO ID | GO IC |
---|---|---|
guanidinoacetate N-methyltransferase activity | GO:0030731 | 9.74 |
S-adenosylmethionine-dependent methyltransferase activity | GO:0008757 | 4.81 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring one-carbon groups | GO:0016741 | 4.3 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
methyltransferase activity | GO:0008168 | 4.35 |
protein dimerization activity | GO:0046983 | 2.72 |
identical protein binding | GO:0042802 | 2.63 |
protein homodimerization activity | GO:0042803 | 3.16 |