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Entry | Name | Description | Category | Pathway | Gene |
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H02683 | Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities | ... cardiomyopathy associated with mild skin, teeth, and hair abnormalities. It has been reported that mutations in PPP1R13L cause this disease. PPP1R13L encodes iASPP protein that is expressed mainly in epithelial cells ... | Congenital malformation | PPP1R13L [HSA:10848] [KO:K27356] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |