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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01404 | Punctate palmoplantar keratoderma | ... mapped to chromosomal region 15q22-15q24 and region 8q24.13-8q24.21, but the molecular basis has not been identified yet. Recently, it has been reported that nonsense mutations in AAGAB gene cause PPKP1. | Congenital malformation |
(PPKP1A) AAGAB [HSA:79719] [KO:K23878] (PPKP1B) COL14A1 [HSA:7373] [KO:K08133] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |