abnormal heart morphology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any structural anomaly of a heart. (Human Phenotype Ontology, HP_3000001)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:3000001
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Genes

54 genes associated with the abnormal heart morphology 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
CCDC22 coiled-coil domain containing 22
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIC2 chloride intracellular channel 2
CLIP2 CAP-GLY domain containing linker protein 2
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
DTNA dystrobrevin, alpha
ELN elastin
FOXF1 forkhead box F1
FUCA1 fucosidase, alpha-L- 1, tissue
GAA glucosidase, alpha; acid
GATA4 GATA binding protein 4
GBA glucosidase, beta, acid
GJA1 gap junction protein, alpha 1, 43kDa
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)
KIAA0196 KIAA0196
LAMP2 lysosomal-associated membrane protein 2
LBR lamin B receptor
LIMK1 LIM domain kinase 1
MKKS McKusick-Kaufman syndrome
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
NEU1 sialidase 1 (lysosomal sialidase)
NKX2-5 NK2 homeobox 5
NR2F2 nuclear receptor subfamily 2, group F, member 2
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
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
TBX1 T-box 1
TBX5 T-box 5
TTR transthyretin
WT1 Wilms tumor 1