echocardiography Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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Genes

224 genes associated with the disease echocardiography in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABHD17C abhydrolase domain containing 17C
ABLIM3 actin binding LIM protein family, member 3
ACBD6 acyl-CoA binding domain containing 6
ACSBG2 acyl-CoA synthetase bubblegum family member 2
ADARB2 adenosine deaminase, RNA-specific, B2 (non-functional)
ADD1 adducin 1 (alpha)
ADGRG2 adhesion G protein-coupled receptor G2
AFTPH aftiphilin
AGPS alkylglycerone phosphate synthase
AIG1 androgen-induced 1
ALDH1L1 aldehyde dehydrogenase 1 family, member L1
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle)
ANKRD44 ankyrin repeat domain 44
ANKRD7 ankyrin repeat domain 7
ARHGAP24 Rho GTPase activating protein 24
ARHGAP44 Rho GTPase activating protein 44
ARHGEF38 Rho guanine nucleotide exchange factor (GEF) 38
ARPP21 cAMP-regulated phosphoprotein, 21kDa
ASTN1 astrotactin 1
ATF2 activating transcription factor 2
ATF6 activating transcription factor 6
ATP10B ATPase, class V, type 10B
ATXN7 ataxin 7
B3GALTL beta 1,3-galactosyltransferase-like
BCAS1 breast carcinoma amplified sequence 1
BCL2 B-cell CLL/lymphoma 2
BRINP3 bone morphogenetic protein/retinoic acid inducible neural-specific 3
C14ORF39 chromosome 14 open reading frame 39
C1ORF94 chromosome 1 open reading frame 94
C4ORF36 chromosome 4 open reading frame 36
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CACNB2 calcium channel, voltage-dependent, beta 2 subunit
CACNG4 calcium channel, voltage-dependent, gamma subunit 4
CADPS Ca++-dependent secretion activator
CCDC171 coiled-coil domain containing 171
CCDC50 coiled-coil domain containing 50
CCDC91 coiled-coil domain containing 91
CENPP centromere protein P
CFAP44 cilia and flagella associated protein 44
CHD7 chromodomain helicase DNA binding protein 7
CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal)
CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9
CLEC12A C-type lectin domain family 12, member A
CLYBL citrate lyase beta like
CNIH3 cornichon family AMPA receptor auxiliary protein 3
CNTN1 contactin 1
CNTN4 contactin 4
CNTN6 contactin 6
CNTNAP2 contactin associated protein-like 2
COL12A1 collagen, type XII, alpha 1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
CPM carboxypeptidase M
CPNE4 copine IV
CSMD1 CUB and Sushi multiple domains 1
CSNK2A2 casein kinase 2, alpha prime polypeptide
CTIF CBP80/20-dependent translation initiation factor
CTNNA3 catenin (cadherin-associated protein), alpha 3
CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)
DAPK1 death-associated protein kinase 1
DGKB diacylglycerol kinase, beta 90kDa
DLG2 discs, large homolog 2 (Drosophila)
DLGAP1 discs, large (Drosophila) homolog-associated protein 1
DMGDH dimethylglycine dehydrogenase
DNAH9 dynein, axonemal, heavy chain 9
DOK6 docking protein 6
DSCAM Down syndrome cell adhesion molecule
EDIL3 EGF-like repeats and discoidin I-like domains 3
EFNA5 ephrin-A5
EGFLAM EGF-like, fibronectin type III and laminin G domains
EIF4E2 eukaryotic translation initiation factor 4E family member 2
EIF4ENIF1 eukaryotic translation initiation factor 4E nuclear import factor 1
EPHA5 EPH receptor A5
EPHA7 EPH receptor A7
ERBB4 erb-b2 receptor tyrosine kinase 4
EREG epiregulin
ESRRG estrogen-related receptor gamma
ETV6 ets variant 6
EYS eyes shut homolog (Drosophila)
FAM129A family with sequence similarity 129, member A
FAM135B family with sequence similarity 135, member B
FAP fibroblast activation protein, alpha
FMN2 formin 2
FSTL5 follistatin-like 5
G2E3 G2/M-phase specific E3 ubiquitin protein ligase
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GALNT13 polypeptide N-acetylgalactosaminyltransferase 13
GAREM GRB2 associated, regulator of MAPK1
GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1
GJA5 gap junction protein, alpha 5, 40kDa
GLIS1 GLIS family zinc finger 1
GLRA2 glycine receptor, alpha 2
GMDS GDP-mannose 4,6-dehydratase
GPC5 glypican 5
GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
GPHN gephyrin
GRM1 glutamate receptor, metabotropic 1
GRM7 glutamate receptor, metabotropic 7
HECTD2 HECT domain containing E3 ubiquitin protein ligase 2
HIBADH 3-hydroxyisobutyrate dehydrogenase
HIRA histone cell cycle regulator
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
HK2 hexokinase 2
HMOX2 heme oxygenase 2
HS6ST3 heparan sulfate 6-O-sulfotransferase 3
HSPA8 heat shock 70kDa protein 8
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
ITGA6 integrin, alpha 6
JAKMIP3 Janus kinase and microtubule interacting protein 3
JAZF1 JAZF zinc finger 1
JKAMP JNK1/MAPK8-associated membrane protein
JPH1 junctophilin 1
KAZN kazrin, periplakin interacting protein
KCNB2 potassium channel, voltage gated Shab related subfamily B, member 2
KCNH5 potassium channel, voltage gated eag related subfamily H, member 5
KCNIP4 Kv channel interacting protein 4
KIAA0922 KIAA0922
KIAA1958 KIAA1958
KIF26B kinesin family member 26B
LAMA2 laminin, alpha 2
LDAH lipid droplet associated hydrolase
LHFPL1 lipoma HMGIC fusion partner-like 1
LIMA1 LIM domain and actin binding 1
LMO3 LIM domain only 3 (rhombotin-like 2)
LMTK2 lemur tyrosine kinase 2
LRGUK leucine-rich repeats and guanylate kinase domain containing
LRP11 low density lipoprotein receptor-related protein 11
LUZP2 leucine zipper protein 2
MACROD2 MACRO domain containing 2
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2
MAPK6 mitogen-activated protein kinase 6
MDH1B malate dehydrogenase 1B, NAD (soluble)
MEOX2 mesenchyme homeobox 2
MID1 midline 1
MMP16 matrix metallopeptidase 16 (membrane-inserted)
MPP7 membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MYRIP myosin VIIA and Rab interacting protein
MYT1L myelin transcription factor 1-like
NEGR1 neuronal growth regulator 1
NHSL1 NHS-like 1
NOL4 nucleolar protein 4
NRG3 neuregulin 3
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OR1C1 olfactory receptor, family 1, subfamily C, member 1
OR4D10 olfactory receptor, family 4, subfamily D, member 10
OTUD7A OTU deubiquitinase 7A
OXCT1 3-oxoacid CoA transferase 1
PAPPA pregnancy-associated plasma protein A, pappalysin 1
PDE10A phosphodiesterase 10A
PDE4B phosphodiesterase 4B, cAMP-specific
PDE4D phosphodiesterase 4D, cAMP-specific
PIK3C2B phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta
PLXDC2 plexin domain containing 2
PLXNA4 plexin A4
POLR3G polymerase (RNA) III (DNA directed) polypeptide G (32kD)
PPP1R9A protein phosphatase 1, regulatory subunit 9A
PRKCE protein kinase C, epsilon
PSEN2 presenilin 2
PTPN3 protein tyrosine phosphatase, non-receptor type 3
PTPRD protein tyrosine phosphatase, receptor type, D
PTPRK protein tyrosine phosphatase, receptor type, K
PTPRT protein tyrosine phosphatase, receptor type, T
PXDNL peroxidasin-like
RALYL RALY RNA binding protein-like
RAP1A RAP1A, member of RAS oncogene family
RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8
RFC1 replication factor C (activator 1) 1, 145kDa
RGS12 regulator of G-protein signaling 12
RNF111 ring finger protein 111
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
ROR2 receptor tyrosine kinase-like orphan receptor 2
RTN4IP1 reticulon 4 interacting protein 1
SCFD1 sec1 family domain containing 1
SCHIP1 schwannomin interacting protein 1
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SGCZ sarcoglycan, zeta
SH3GL2 SH3-domain GRB2-like 2
SHC4 SHC (Src homology 2 domain containing) family, member 4
SIPA1L2 signal-induced proliferation-associated 1 like 2
SIX6 SIX homeobox 6
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3
SLC2A13 solute carrier family 2 (facilitated glucose transporter), member 13
SLC31A2 solute carrier family 31 (copper transporter), member 2
SLC35F3 solute carrier family 35, member F3
SLIT2 slit homolog 2 (Drosophila)
SNCAIP synuclein, alpha interacting protein
SNX16 sorting nexin 16
SORCS1 sortilin-related VPS10 domain containing receptor 1
SRPX2 sushi-repeat containing protein, X-linked 2
STYK1 serine/threonine/tyrosine kinase 1
SYNE1 spectrin repeat containing, nuclear envelope 1
SYT14 synaptotagmin XIV
SYTL4 synaptotagmin-like 4
TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1
TBC1D32 TBC1 domain family, member 32
TENM1 teneurin transmembrane protein 1
TMEM132B transmembrane protein 132B
TMEM163 transmembrane protein 163
TMEM71 transmembrane protein 71
TNRC6B trinucleotide repeat containing 6B
TRPC4 transient receptor potential cation channel, subfamily C, member 4
TRPC5 transient receptor potential cation channel, subfamily C, member 5
TRPM3 transient receptor potential cation channel, subfamily M, member 3
TTF2 transcription termination factor, RNA polymerase II
UPRT uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)
VAT1L vesicle amine transport 1-like
WDR7 WD repeat domain 7
XKR4 XK, Kell blood group complex subunit-related family, member 4
ZMYND11 zinc finger, MYND-type containing 11
ZNF385D zinc finger protein 385D
ZNF492 zinc finger protein 492
ZNF569 zinc finger protein 569
ZNF780B zinc finger protein 780B