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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00293 | Arrhythmogenic right ventricular cardiomyopathy | Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive ... | Cardiovascular disease | hsa05412 Arrhythmogenic right ventricular cardiomyopathy |
(ARVD1) TGFB3 [HSA:7043] [KO:K13377] (ARVD2) RYR2 [HSA:6262] [KO:K04962] (ARVD5) TMEM43 [HSA:79188] [KO:K27488] (ARVD8) DSP [HSA:1832] [KO:K10381] (ARVD9) PKP2 [HSA:5318] [KO:K12642] (ARVD10) DSG2 [HSA:1829] [KO:K07597] (ARVD11) DSC2 [HSA:1824] [KO:K07601] (ARVD12) JUP [HSA:3728] [KO:K10056] (ARVD13) CTNNA3 [HSA:29119] [KO:K05691] (ARVD14) CDH2 [HSA:1000] [KO:K06736] |
| H01404 | Punctate palmoplantar keratoderma | ... on the palms and soles. PPKPs are classified into 3 types; PPKP1 (Brauer-Buschke-Fischer disease), PPKP2 (porokeratosis punctata palmaris et plantaris), and PPKP3 (Acrokeratoelastoidosis lichenoides). ... | Congenital malformation |
(PPKP1A) AAGAB [HSA:79719] [KO:K23878] (PPKP1B) COL14A1 [HSA:7373] [KO:K08133] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |