Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02311 | Molybdenum cofactor deficiency | ... disorder that leads to early childhood death. Mutations have been identified in three genes: MOCS1, MOCS2, and GEPH. These mutations result in the simultaneous loss of all MoCo-dependent enzyme activities ... | Inherited metabolic disorder |
(MOCODA) MOCS1 [HSA:4337] [KO:K20967] (MOCODB) MOCS2 [HSA:4338] [KO:K03635] (MOCODC) GEPH [HSA:10243] [KO:K15376] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |