| Disease ID | Disease name | Source of annotation with MTRR | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 236270 | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLE COMPLEMENTATION TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | MTRR |
| 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
| 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] reductase activity | GO:0030586 | 9.05 |
| NADPH-hemoprotein reductase activity | GO:0003958 | 8.35 |
| binding | GO:0005488 | 0.18 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| oxidoreductase activity | GO:0016491 | 3.12 |
| coenzyme binding | GO:0050662 | 4.53 |
| oxidoreductase activity, oxidizing metal ions | GO:0016722 | 6.85 |
| flavin adenine dinucleotide binding | GO:0050660 | 5.41 |
| nucleotide binding | GO:0000166 | 1.96 |
| FAD binding | GO:0071949 | 7.03 |
| FMN binding | GO:0010181 | 7.03 |
| oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor | GO:0016653 | 7.44 |
| NADP binding | GO:0050661 | 5.93 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor | GO:0016723 | 7.34 |
| cofactor binding | GO:0048037 | 4.16 |
| aquacobalamin reductase (NADPH) activity | GO:0050444 | 9.74 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| oxidoreductase activity, acting on NAD(P)H | GO:0016651 | 5.13 |
| protein binding | GO:0005515 | 0.46 |
| NADPH binding | GO:0070402 | 7.1 |
| ribonucleotide binding | GO:0032553 | 2.19 |