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Entry Name Description Category Pathway Gene
H01015 Jalili syndrome ... dystrophy and amelogenesis imperfecta. It is caused by mutations in the CNNM4 gene, encoding a putative metal transporter, that is expressed in the neural retina and in ameloblasts in the developing tooth. Congenital malformation CNNM4 [HSA:26504] [KO:K16302]
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