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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02237 | AMP deaminase deficiency | ... in AMP deaminase gene (AMPD1) have been identified. Although a point mutation on the human erythrocyte AMPD3 has also been identified, erythrocyte AMP deaminase deficiency was clinically asymptomatic. | Inherited metabolic disorder |
AMPD1 [HSA:270] [KO:K01490] AMPD3 [HSA:272] [KO:K01490] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |