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Entry | Name | Description | Category | Pathway | Gene |
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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |