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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00710 | Erythrokeratodermia variabilis | ... palmoplantar keratoderma is common. Erythrokeratodermia variabilis et progressiva (EKVP) is caused by mutations in GJB3, GJB4, and GJA1, the genes encoding for connexin channels proteins in the epidermis. | Congenital malformation |
(EKVP1) GJB3 [HSA:2707] [KO:K07622] (EKVP2) GJB4 [HSA:127534] [KO:K07623] (EKVP3) GJA1 [HSA:2697] [KO:K07372] (EKVP4) KDSR [HSA:2531] [KO:K04708] (EKVP5) KRT83 [HSA:3889] [KO:K07605] (EKVP6) TRPM4 [HSA:54795] [KO:K04979] (EKVP7) PERP [HSA:64065] [KO:K10136] |
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