Hypoplastic Left Heart Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. (Human Disease Ontology, DOID_9955)
External Link https://www.disgenet.org/browser/0/1/0/C3280795
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Genes

34 genes associated with the disease Hypoplastic Left Heart Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACSS2 acyl-CoA synthetase short-chain family member 2
ADCY5 adenylate cyclase 5
ADRB1 adrenoceptor beta 1
APOE apolipoprotein E
C16ORF95 chromosome 16 open reading frame 95
CAMK2G calcium/calmodulin-dependent protein kinase II gamma
CAMK4 calcium/calmodulin-dependent protein kinase IV
CHDH choline dehydrogenase
ELN elastin
ENSA endosulfine alpha
ERBB4 erb-b2 receptor tyrosine kinase 4
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
FGFR1 fibroblast growth factor receptor 1
FXN frataxin
GJA1 gap junction protein, alpha 1, 43kDa
HAND1 heart and neural crest derivatives expressed 1
HDAC9 histone deacetylase 9
MCTP2 multiple C2 domains, transmembrane 2
MGAT4A mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH7B myosin, heavy chain 7B, cardiac muscle, beta
NKX2-5 NK2 homeobox 5
NOTCH1 notch 1
PCDHA13 protocadherin alpha 13
PCDHA9 protocadherin alpha 9
PKD1L2 polycystic kidney disease 1-like 2 (gene/pseudogene)
PLN phospholamban
RBFOX2 RNA binding protein, fox-1 homolog (C. elegans) 2
SAP130 Sin3A-associated protein, 130kDa
SYNPR synaptoporin
TAZ tafazzin
TBX1 T-box 1
TNNT2 troponin T type 2 (cardiac)