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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00715 |
Darier disease Dyskeratosis follicularis |
... loss of cell-to-cell adhesion and abnormal keratinization. Darier disease is caused by mutations in ATP2A2, the gene encoding a sarco/endoplasmic reticulum Ca2+-ATPase. Because of some similarities in ... | Congenital malformation | ATP2A2 [HSA:488] [KO:K05853] | |
| H00755 | Acrokeratosis verruciformis | ... characterized by multiple planar wart-like lesions on the hands and feet. The lesions are usually present at birth. Mutations in ATP2A2 encoding the calcium pump in sarcoendoplasmic reticulum have been identified. | Congenital malformation | ATP2A2 [HSA:488] [KO:K05853] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |