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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01272 | Hypoplastic left heart syndrome | ... mitral and aortic valves. There is now strong evidence implicating multiple genetic loci for HLHS. Potential mutations in at least 4 genes, GJA1, NKX2-5, NOTCH1, and HAND1, have been associated with HLHS. | Congenital malformation |
GJA1 [HSA:2697] [KO:K07372] NKX2-5 [HSA:1482] [KO:K09345] HAND1 [HSA:9421] [KO:K09071] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |