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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00684 | Pachyonychia congenita | ... follicular hyperkeratosis, leukokeratosis of the oral mucosa, and various cysts (steatocysts and pilosebaceous cysts). It is caused by a mutation in one of four keratin genes KRT6A, KRT6B, KRT16, or KRT17. | Congenital malformation |
(PC1) KRT16 [HSA:3868] [KO:K07604] (PC2) KRT17 [HSA:3872] [KO:K07604] (PC3) KRT6A [HSA:3853] [KO:K07605] (PC4) KRT6B [HSA:3854] [KO:K07605] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |