| Disease ID | Disease name | Source of annotation with CD320 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 613646 | METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT | OMIM | link to OMIM | 1 | CD320 |
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| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Defects in vitamin and cofactor metabolism | R-HSA-3296482 | 8.52 |
| Defective CD320 causes methylmalonic aciduria | R-HSA-3359485 | 11.98 |
| Metabolism of vitamins and cofactors | R-HSA-196854 | 6.54 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Defects in cobalamin (B12) metabolism | R-HSA-3296469 | 9.28 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolism of water-soluble vitamins and cofactors | R-HSA-196849 | 6.54 |
| Cobalamin (Cbl, vitamin B12) transport and metabolism | R-HSA-196741 | 8.73 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| cobalamin binding | GO:0031419 | 7.54 |
| cobalamin transporter activity | GO:0015235 | 8.64 |
| growth factor activity | GO:0008083 | 4.66 |
| vitamin transporter activity | GO:0051183 | 6.56 |
| tetrapyrrole binding | GO:0046906 | 4.8 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| vitamin binding | GO:0019842 | 5.34 |
| small molecule binding | GO:0036094 | 1.89 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| transporter activity | GO:0005215 | 2.57 |
| receptor binding | GO:0005102 | 2.43 |
| heterocyclic compound binding | GO:1901363 | 1.06 |