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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]
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[ KEGG | DISEASE | DRUG | MEDICUS ]