| Disease ID | Disease name | Source of annotation with CTH | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 219500 | CYSTATHIONINURIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CTH |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Glycine, serine and threonine metabolism | hsa00260 | 7.45 |
| Biosynthesis of amino acids | hsa01230 | 6.58 |
| Selenocompound metabolism | hsa00450 | 8.6 |
| Cysteine and methionine metabolism | hsa00270 | 7.56 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Cysteine formation from homocysteine | R-HSA-1614603 | 11.98 |
| Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
| Sulfur amino acid metabolism | R-HSA-1614635 | 8.46 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Degradation of cysteine and homocysteine | R-HSA-1614558 | 9.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| anion binding | GO:0043168 | 4.17 |
| carbon-sulfur lyase activity | GO:0016846 | 7.54 |
| cystathionine gamma-lyase activity | GO:0004123 | 9.74 |
| L-cysteine desulfhydrase activity | GO:0080146 | 9.74 |
| L-cystine L-cysteine-lyase (deaminating) | GO:0044540 | 9.74 |
| catalytic activity | GO:0003824 | 1.05 |
| homocysteine desulfhydrase activity | GO:0047982 | 9.74 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| cofactor binding | GO:0048037 | 4.16 |
| ion binding | GO:0043167 | 1.36 |
| lyase activity | GO:0016829 | 4.53 |
| pyridoxal phosphate binding | GO:0030170 | 5.83 |
| calmodulin binding | GO:0005516 | 4.55 |