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Entry Name Description Category Pathway Gene
H02692 Usmani-Riazuddin syndrome ... with developmental delay, intellectual disability, and epilepsy. It has been reported that mutations in AP1G1 cause this disease. AP1G1 encodes gamma-1 subunit of adaptor-related protein complex 1. Adaptor ... Nervous system disease AP1G1 [HSA:164] [KO:K12391]
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