| Disease ID | Disease name | Source of annotation with BTD | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 253260 | BIOTINIDASE DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 1 | BTD |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Vitamin digestion and absorption | hsa04977 | 8.24 |
| Biotin metabolism | hsa00780 | 11.18 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Defects in vitamin and cofactor metabolism | R-HSA-3296482 | 8.52 |
| Metabolism of vitamins and cofactors | R-HSA-196854 | 6.54 |
| Defects in biotin (Btn) metabolism | R-HSA-3323169 | 9.81 |
| Defective BTD causes biotidinase deficiency | R-HSA-3371598 | 12.98 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Biotin transport and metabolism | R-HSA-196780 | 9.52 |
| Metabolism of water-soluble vitamins and cofactors | R-HSA-196849 | 6.54 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| biotinidase activity | GO:0047708 | 9.05 |
| hydrolase activity | GO:0016787 | 1.9 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | GO:0016810 | 4.76 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | GO:0016811 | 5.28 |
| catalytic activity | GO:0003824 | 1.05 |