Hypoplastic Left Heart Syndrome Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. (Human Disease Ontology, DOID_9955)
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12 genes associated with the Hypoplastic Left Heart Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
BHMT betaine--homocysteine S-methyltransferase
CCL2 chemokine (C-C motif) ligand 2
EDN1 endothelin 1
FOXP1 forkhead box P1
GJA1 gap junction protein, alpha 1, 43kDa
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NKX2-5 NK2 homeobox 5
NOS3 nitric oxide synthase 3 (endothelial cell)
SHMT1 serine hydroxymethyltransferase 1 (soluble)
TCN2 transcobalamin II