Gene | Associated with CEREBRAL CREATINE DEFICIENCY SYNDROME in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
---|---|---|---|---|---|
SLC6A8 | ClinVar, OMIM, HUMSAVAR | HGNC link | Xq28 | 1 | PS300352 |
GATM | ClinVar, OMIM, HUMSAVAR | HGNC link | 15q21.1 | 1 | PS300352 |
GAMT | ClinVar, OMIM, HUMSAVAR | HGNC link | 19p13.3 | 1 | PS300352 |
Download the disease annotation in CSV format
KEGG term | KEGG term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Glycine, serine and threonine metabolism | hsa00260 | 7.45 | 2 | GATM, GAMT |
Metabolic pathways | hsa01100 | 2.49 | 2 | GATM, GAMT |
Arginine and proline metabolism | hsa00330 | 6.84 | 2 | GATM, GAMT |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Glycine, serine and threonine metabolism (hsa00260) | - | 7.45 | 0.0 | GATM, GAMT |
Amino acid metabolism | NEW | 4.63 | 0.011 | GATM, GAMT |
Arginine and proline metabolism (hsa00330) | - | 6.84 | 0.001 | GATM, GAMT |
REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 | 3 | SLC6A8, GATM, GAMT |
Creatine metabolism | R-HSA-71288 | 9.66 | 3 | SLC6A8, GATM, GAMT |
Metabolism | R-HSA-1430728 | 2.34 | 3 | SLC6A8, GATM, GAMT |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Metabolism of amino acids and derivatives (R-HSA-71291) | - | 5.4 | 0.0 | SLC6A8, GATM, GAMT |
Creatine metabolism (R-HSA-71288) | - | 9.66 | 0.0 | SLC6A8, GATM, GAMT |
Metabolism (R-HSA-1430728) | - | 2.34 | 0.031 | SLC6A8, GATM, GAMT |
GO | IC | Number of genes with the same GO | Genes |
---|---|---|---|
catalytic activity (GO:0003824) | 1.05 | 2 | GATM, GAMT |
transferase activity (GO:0016740) | 1.95 | 2 | GATM, GAMT |
transferase activity, transferring one-carbon groups (GO:0016741) | 4.3 | 2 | GATM, GAMT |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
transferase activity, transferring one-carbon groups (GO:0016741) | - | 4.3 | 0.021 | GATM, GAMT |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
cellular amino acid biosynthetic process (GO:0008652) | NEW | 5.49 | 0.012 | GATM, GAMT |
cellular amino acid metabolic process (GO:0006520) | NEW | 4.22 | 0.002 | GATM, SLC6A8, GAMT |
cellular modified amino acid metabolic process (GO:0006575) | NEW | 4.69 | 0.002 | GATM, SLC6A8, GAMT |
muscle contraction (GO:0006936) | - | 4.37 | 0.034 | SLC6A8, GAMT |
cellular modified amino acid biosynthetic process (GO:0042398) | - | 6.07 | 0.007 | GATM, GAMT |
creatine metabolic process (GO:0006600) | - | 7.43 | 0.0 | SLC6A8, GATM, GAMT |
creatine biosynthetic process (GO:0006601) | - | 9.04 | 0.0 | GATM, GAMT |
carboxylic acid metabolic process (GO:0019752) | NEW | 3.12 | 0.012 | SLC6A8, GATM, GAMT |
organic acid metabolic process (GO:0006082) | NEW | 3.01 | 0.018 | GATM, SLC6A8, GAMT |
oxoacid metabolic process (GO:0043436) | NEW | 3.12 | 0.018 | GATM, SLC6A8, GAMT |
alpha-amino acid metabolic process (GO:1901605) | NEW | 4.5 | 0.0 | SLC6A8, GATM, GAMT |
alpha-amino acid biosynthetic process (GO:1901607) | NEW | 5.51 | 0.009 | GATM, GAMT |
GO | IC | Number of genes with the same GO | Genes |
---|---|---|---|
cell part (GO:0044464) | 0.11 | 3 | SLC6A8, GATM, GAMT |
cytoplasm (GO:0005737) | 1.01 | 2 | GATM, GAMT |
extracellular organelle (GO:0043230) | 1.89 | 2 | GATM, GAMT |
vesicle (GO:0031982) | 1.64 | 2 | GATM, GAMT |
extracellular region part (GO:0044421) | 1.57 | 2 | GATM, GAMT |
membrane (GO:0016020) | 0.68 | 2 | GATM, SLC6A8 |
cytoplasmic part (GO:0044444) | 0.82 | 2 | GATM, GAMT |
membrane-bounded vesicle (GO:0031988) | 1.71 | 2 | GATM, GAMT |
intracellular organelle (GO:0043229) | 0.51 | 2 | GATM, GAMT |
intracellular membrane-bounded organelle (GO:0043231) | 0.6 | 2 | GATM, GAMT |
intracellular part (GO:0044424) | 0.28 | 2 | GATM, GAMT |
extracellular vesicle (GO:1903561) | 1.89 | 2 | GATM, GAMT |
membrane-bounded organelle (GO:0043227) | 0.47 | 2 | GATM, GAMT |
organelle (GO:0043226) | 0.4 | 2 | GATM, GAMT |
extracellular exosome (GO:0070062) | 1.89 | 2 | GATM, GAMT |