Disease ID | Disease name | Source of annotation with TCN2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
275350 | TRANSCOBALAMIN II DEFICIENCY | ClinVar, OMIM | link to OMIM | 1 | TCN2 |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Vitamin digestion and absorption | hsa04977 | 8.24 |
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 |
Defective TCN2 causes hereditary megaloblastic anemia | R-HSA-3359454 | 12.98 |
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 |
cation binding | GO:0043169 | 1.4 |
tetrapyrrole binding | GO:0046906 | 4.8 |
organic cyclic compound binding | GO:0097159 | 1.05 |
vitamin binding | GO:0019842 | 5.34 |
ion binding | GO:0043167 | 1.36 |
small molecule binding | GO:0036094 | 1.89 |
binding | GO:0005488 | 0.18 |
metal ion binding | GO:0046872 | 1.41 |
heterocyclic compound binding | GO:1901363 | 1.06 |