| Disease ID | Disease name | Source of annotation with GIF | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 261000 | INTRINSIC FACTOR DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GIF |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Vitamin digestion and absorption | hsa04977 | 8.24 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of water-soluble vitamins and cofactors | R-HSA-196849 | 6.54 |
| Metabolism of vitamins and cofactors | R-HSA-196854 | 6.54 |
| Defects in cobalamin (B12) metabolism | R-HSA-3296469 | 9.28 |
| Defective GIF causes intrinsic factor deficiency | R-HSA-3359457 | 12.98 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Defective CUBN causes hereditary megaloblastic anemia 1 | R-HSA-3359463 | 11.4 |
| Defective AMN causes hereditary megaloblastic anemia 1 | R-HSA-3359462 | 11.4 |
| Metabolism | R-HSA-1430728 | 2.34 |
| 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 |
|---|---|---|
| cobalamin binding | GO:0031419 | 7.54 |
| 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 |
| heterocyclic compound binding | GO:1901363 | 1.06 |