Disease ID | Disease name | Source of annotation with GATM | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS300352 | CEREBRAL CREATINE DEFICIENCY SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | GAMT, GATM, SLC6A8 |
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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 |
---|---|---|
catalytic activity | GO:0003824 | 1.05 |
amidinotransferase activity | GO:0015067 | 9.74 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring one-carbon groups | GO:0016741 | 4.3 |
transferase activity, transferring nitrogenous groups | GO:0016769 | 6.65 |
glycine amidinotransferase activity | GO:0015068 | 9.74 |