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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01256 | Foveal hypoplasia | ... associated with presenile cataract. The mutations in the PAX6 gene have been described in foveal hypoplasia. Recently, it has been reported that recessive mutations in SLC38A8 cause foveal hypoplasia. | Nervous system disease |
(FVH1) PAX6 [HSA:5080] [KO:K08031] (FVH2) SLC38A8 [HSA:146167] [KO:K14994] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |