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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]
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