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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02736 | Neurodegeneration and seizures due to copper transport defect | ... global developmental delay, seizures and rapid brain atrophy. It has been reported that mutations in SLC31A1 cause this syndrome. SLC31A1 encodes a high-affinity copper uptake protein CTR1 that is essential ... | Nervous system disease | SLC31A1 [HSA:1317] [KO:K14686] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |