cardiomegaly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Increased size of the heart. (Human Phenotype Ontology, HP_0001640)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001640
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Genes

38 genes associated with the cardiomegaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CLIC2 chloride intracellular channel 2
CLIP2 CAP-GLY domain containing linker protein 2
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
ELN elastin
FUCA1 fucosidase, alpha-L- 1, tissue
GAA glucosidase, alpha; acid
GBA glucosidase, beta, acid
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBB hemoglobin, beta
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
JUP junction plakoglobin
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
LAMP2 lysosomal-associated membrane protein 2
LBR lamin B receptor
LIMK1 LIM domain kinase 1
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
NEU1 sialidase 1 (lysosomal sialidase)
NSD1 nuclear receptor binding SET domain protein 1
PHYH phytanoyl-CoA 2-hydroxylase
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
RFC2 replication factor C (activator 1) 2, 40kDa
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
TBL2 transducin (beta)-like 2
TTR transthyretin