| Disease ID | Disease name | Source of annotation with MTR | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 250940 | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | MTR |
| 606764 | GASTROINTESTINAL STROMAL TUMOR | ClinVar | link to OMIM | 10 | SDHB, SLC19A1, MTHFR, SDHC, FOLR1, MTRR, KIT, PDGFRA, SHMT1, MTR |
| 601634 | NEURAL TUBE DEFECTS, FOLATE-SENSITIVE | OMIM | link to OMIM | 4 | MTHFD1, MTRR, MTR, MTHFR |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Biosynthesis of amino acids | hsa01230 | 6.58 |
| Selenocompound metabolism | hsa00450 | 8.6 |
| Cysteine and methionine metabolism | hsa00270 | 7.56 |
| Metabolic pathways | hsa01100 | 2.49 |
| One carbon pool by folate | hsa00670 | 8.52 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of water-soluble vitamins and cofactors | R-HSA-196849 | 6.54 |
| Biological oxidations | R-HSA-211859 | 5.55 |
| Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
| Sulfur amino acid metabolism | R-HSA-1614635 | 8.46 |
| Methylation | R-HSA-156581 | 9.66 |
| Phase II conjugation | R-HSA-156580 | 6.52 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Defects in cobalamin (B12) metabolism | R-HSA-3296469 | 9.28 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE | R-HSA-3359467 | 11.98 |
| Metabolism of vitamins and cofactors | R-HSA-196854 | 6.54 |
| Defective MTR causes methylmalonic aciduria and homocystinuria type cblG | R-HSA-3359469 | 11.98 |
| Defects in vitamin and cofactor metabolism | R-HSA-3296482 | 8.52 |
| Cobalamin (Cbl, vitamin B12) transport and metabolism | R-HSA-196741 | 8.73 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| methionine synthase activity | GO:0008705 | 9.74 |
| binding | GO:0005488 | 0.18 |
| methyltransferase activity | GO:0008168 | 4.35 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| cobalamin binding | GO:0031419 | 7.54 |
| cation binding | GO:0043169 | 1.4 |
| S-adenosylmethionine-homocysteine S-methyltransferase activity | GO:0008898 | 8.64 |
| transition metal ion binding | GO:0046914 | 2.48 |
| ion binding | GO:0043167 | 1.36 |
| transferase activity | GO:0016740 | 1.95 |
| transferase activity, transferring one-carbon groups | GO:0016741 | 4.3 |
| metal ion binding | GO:0046872 | 1.41 |
| S-adenosylmethionine-dependent methyltransferase activity | GO:0008757 | 4.81 |
| S-methyltransferase activity | GO:0008172 | 7.66 |
| catalytic activity | GO:0003824 | 1.05 |
| small molecule binding | GO:0036094 | 1.89 |
| tetrapyrrole binding | GO:0046906 | 4.8 |
| 5-methyltetrahydrofolate-dependent methyltransferase activity | GO:0042084 | 9.74 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| vitamin binding | GO:0019842 | 5.34 |
| protein binding | GO:0005515 | 0.46 |
| zinc ion binding | GO:0008270 | 2.66 |