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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00710 | Erythrokeratodermia variabilis | Erythrokeratoderma variabilis is a rare genodermatosis characterized by both transient, demarcated erythema and persistent hyperkeratosis. Lesions usually appear within the first year of life but may arise ... | 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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| H01263 |
Progressive cardiac conduction defect (PCCD) Progressive familial heart block (PFHB) Lenegre-Lev disease |
... and sudden death. Mutations in the SCN5A gene encoding the cardiac sodium channel are responsible for Brugada syndrome (BS) and also for PCCD. Furthermore, another PCCD is caused by mutations in TRPM4. | Cardiovascular disease |
(PFHB1A) SCN5A [HSA:6331] [KO:K04838] (PFHB1B) TRPM4 [HSA:54795] [KO:K04979] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |