Echocardiography Gene Set

Dataset dbGAP Gene-Trait Associations
Category disease or phenotype associations
Type trait
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Genes

273 genes associated with the trait Echocardiography in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Symbol Name Standardized Value
PDE4B phosphodiesterase 4B, cAMP-specific 1.4216
STYK1 serine/threonine/tyrosine kinase 1 1.2634
TRPC5 transient receptor potential cation channel, subfamily C, member 5 1.23041
PSEN2 presenilin 2 1.12511
HS6ST3 heparan sulfate 6-O-sulfotransferase 3 1.09431
ANKRD7 ankyrin repeat domain 7 1.08563
TTF2 transcription termination factor, RNA polymerase II 1.06355
MPP7 membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 1.02956
PPP1R9A protein phosphatase 1, regulatory subunit 9A 1.01064
HIRA histone cell cycle regulator 1.00938
DNAH9 dynein, axonemal, heavy chain 9 0.990348
CNTN4 contactin 4 0.965213
JPH1 junctophilin 1 0.959477
GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 0.944733
FAM135B family with sequence similarity 135, member B 0.940005
ARHGEF38 Rho guanine nucleotide exchange factor (GEF) 38 0.937203
ANKRD44 ankyrin repeat domain 44 0.921102
ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle) 0.909884
CNTNAP2 contactin associated protein-like 2 0.874307
IL1RAPL1 interleukin 1 receptor accessory protein-like 1 0.86985
PLXNA4 plexin A4 0.859863
ABHD17C abhydrolase domain containing 17C 0.858902
COL12A1 collagen, type XII, alpha 1 0.828064
MYRIP myosin VIIA and Rab interacting protein 0.810086
SYTL4 synaptotagmin-like 4 0.800006
G2E3 G2/M-phase specific E3 ubiquitin protein ligase 0.778481
CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) 0.77822
ALDH1L1 aldehyde dehydrogenase 1 family, member L1 0.777661
ZNF780B zinc finger protein 780B 0.771758
SORCS1 sortilin-related VPS10 domain containing receptor 1 0.764462
LRP11 low density lipoprotein receptor-related protein 11 0.76208
TMEM163 transmembrane protein 163 0.738887
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 0.73781
DMGDH dimethylglycine dehydrogenase 0.726888
GRM7 glutamate receptor, metabotropic 7 0.712861
FMN2 formin 2 0.712797
EGFLAM EGF-like, fibronectin type III and laminin G domains 0.686888
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.671904
SLC2A13 solute carrier family 2 (facilitated glucose transporter), member 13 0.663673
LAMA2 laminin, alpha 2 0.653524
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa 0.652354
LIMA1 LIM domain and actin binding 1 0.649483
SIPA1L2 signal-induced proliferation-associated 1 like 2 0.643262
ATXN7 ataxin 7 0.642771
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 0.641526
SLIT2 slit homolog 2 (Drosophila) 0.639965
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.639457
ZNF492 zinc finger protein 492 0.636708
TNRC6B trinucleotide repeat containing 6B 0.635373
GRM1 glutamate receptor, metabotropic 1 0.634879
KAZN kazrin, periplakin interacting protein 0.634287
CTIF CBP80/20-dependent translation initiation factor 0.630772
GPC5 glypican 5 0.625951
ZNF385D zinc finger protein 385D 0.624629
AFTPH aftiphilin 0.623763
PTPRK protein tyrosine phosphatase, receptor type, K 0.615502
SCHIP1 schwannomin interacting protein 1 0.606022
OR1C1 olfactory receptor, family 1, subfamily C, member 1 0.606005
LHFPL1 lipoma HMGIC fusion partner-like 1 0.596481
CCDC171 coiled-coil domain containing 171 0.577401
C1ORF94 chromosome 1 open reading frame 94 0.572329
C4ORF36 chromosome 4 open reading frame 36 0.570522
CCDC91 coiled-coil domain containing 91 0.566228
NOL4 nucleolar protein 4 0.555975
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase 0.55247
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 0.551133
CACNB2 calcium channel, voltage-dependent, beta 2 subunit 0.546037
PART1 prostate androgen-regulated transcript 1 (non-protein coding) 0.545013
HIBADH 3-hydroxyisobutyrate dehydrogenase 0.538627
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 0.53693
CENPP centromere protein P 0.535919
TENM1 teneurin transmembrane protein 1 0.532406
WDR7 WD repeat domain 7 0.532379
B3GALTL beta 1,3-galactosyltransferase-like 0.531155
CADPS Ca++-dependent secretion activator 0.52695
CSMD1 CUB and Sushi multiple domains 1 0.520006
TBC1D32 TBC1 domain family, member 32 0.517605
FAP fibroblast activation protein, alpha 0.516372
OR4D10 olfactory receptor, family 4, subfamily D, member 10 0.51022
UPRT uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 0.506026
LDAH lipid droplet associated hydrolase 0.504477
GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 0.500183
EFNA5 ephrin-A5 0.498739
PAPPA pregnancy-associated plasma protein A, pappalysin 1 0.495538
ADD1 adducin 1 (alpha) 0.49459
NEGR1 neuronal growth regulator 1 0.493986
OXCT1 3-oxoacid CoA transferase 1 0.493032
LMO3 LIM domain only 3 (rhombotin-like 2) 0.487637
TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 0.486018
RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 0.48348
VAT1L vesicle amine transport 1-like 0.479335
CHD7 chromodomain helicase DNA binding protein 7 0.478504
LRGUK leucine-rich repeats and guanylate kinase domain containing 0.472462
RGS12 regulator of G-protein signaling 12 0.472015
RAP1A RAP1A, member of RAS oncogene family 0.468858
CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 0.455877
SYT14 synaptotagmin XIV 0.451769
ROR2 receptor tyrosine kinase-like orphan receptor 2 0.451591
XKR4 XK, Kell blood group complex subunit-related family, member 4 0.449724
MEOX2 mesenchyme homeobox 2 0.448498
SRPX2 sushi-repeat containing protein, X-linked 2 0.447029
BCAS1 breast carcinoma amplified sequence 1 0.437163
C14ORF39 chromosome 14 open reading frame 39 0.436017
PIK3C2B phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 0.429972
MID1 midline 1 0.428361
FAM129A family with sequence similarity 129, member A 0.423531
TRPM3 transient receptor potential cation channel, subfamily M, member 3 0.420081
CLEC12A C-type lectin domain family 12, member A 0.418832
KIAA1958 KIAA1958 0.415755
JAZF1 JAZF zinc finger 1 0.415437
CPNE4 copine IV 0.411559
EREG epiregulin 0.408592
ARHGAP44 Rho GTPase activating protein 44 0.407562
ESRRG estrogen-related receptor gamma 0.404704
ERBB4 erb-b2 receptor tyrosine kinase 4 0.404377
BCL2 B-cell CLL/lymphoma 2 0.403834
SH3GL2 SH3-domain GRB2-like 2 0.401429
ZMYND11 zinc finger, MYND-type containing 11 0.391345
NRG3 neuregulin 3 0.387888
MAPK6 mitogen-activated protein kinase 6 0.386218
NHSL1 NHS-like 1 0.383516
CNTN6 contactin 6 0.382717
SLC31A2 solute carrier family 31 (copper transporter), member 2 0.379357
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 0.376213
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 0.373028
EIF4E2 eukaryotic translation initiation factor 4E family member 2 0.36917
EIF4ENIF1 eukaryotic translation initiation factor 4E nuclear import factor 1 0.367591
PXDNL peroxidasin-like 0.365984
ZNF569 zinc finger protein 569 0.365004
ITGA6 integrin, alpha 6 0.364215
PTPN3 protein tyrosine phosphatase, non-receptor type 3 0.363332
CPM carboxypeptidase M 0.362237
TRPC4 transient receptor potential cation channel, subfamily C, member 4 0.358686
KCNB2 potassium channel, voltage gated Shab related subfamily B, member 2 0.353185
POLR3G polymerase (RNA) III (DNA directed) polypeptide G (32kD) 0.352574
ATF2 activating transcription factor 2 0.349201
BRINP3 bone morphogenetic protein/retinoic acid inducible neural-specific 3 0.346139
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 0.336971
CSNK2A2 casein kinase 2, alpha prime polypeptide 0.334575
CFAP44 cilia and flagella associated protein 44 0.332367
EYS eyes shut homolog (Drosophila) 0.331326
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit 0.326002
GLIS1 GLIS family zinc finger 1 0.325901
SNCAIP synuclein, alpha interacting protein 0.31841
SLC35F3 solute carrier family 35, member F3 0.318172
JAKMIP3 Janus kinase and microtubule interacting protein 3 0.31683
FSTL5 follistatin-like 5 0.316145
HK2 hexokinase 2 0.316056
PDE4D phosphodiesterase 4D, cAMP-specific 0.313116
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 0.312442
DAPK1 death-associated protein kinase 1 0.309456
HSPA8 heat shock 70kDa protein 8 0.30853
KCNIP4 Kv channel interacting protein 4 0.298688
GUCY1B2 guanylate cyclase 1, soluble, beta 2 (pseudogene) 0.298268
SIX6 SIX homeobox 6 0.297841
MACROD2 MACRO domain containing 2 0.297556
KIAA0922 KIAA0922 0.295733
ADARB2 adenosine deaminase, RNA-specific, B2 (non-functional) 0.292811
GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 0.291106
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.289291
PTPRT protein tyrosine phosphatase, receptor type, T 0.285508
ACBD6 acyl-CoA binding domain containing 6 0.284817
SCFD1 sec1 family domain containing 1 0.284564
EPHA5 EPH receptor A5 0.283544
PTPRD protein tyrosine phosphatase, receptor type, D 0.27859
ETV6 ets variant 6 0.274179
AGPS alkylglycerone phosphate synthase 0.273788
KIF26B kinesin family member 26B 0.270601
RFC1 replication factor C (activator 1) 1, 145kDa 0.27043
ATF6 activating transcription factor 6 0.268658
CLYBL citrate lyase beta like 0.263969
KCNH5 potassium channel, voltage gated eag related subfamily H, member 5 0.263613
AIG1 androgen-induced 1 0.261944
MMP16 matrix metallopeptidase 16 (membrane-inserted) 0.259563
CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18 0.256862
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 0.256478
ANKH ANKH inorganic pyrophosphate transport regulator 0.255949
DOK6 docking protein 6 0.255418
CCDC50 coiled-coil domain containing 50 0.253567
LUZP2 leucine zipper protein 2 0.249995
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2 0.2494
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 0.24869
ASTN1 astrotactin 1 0.248178
GJA5 gap junction protein, alpha 5, 40kDa 0.243138
TMEM132B transmembrane protein 132B 0.239352
RALYL RALY RNA binding protein-like 0.234296
HMOX2 heme oxygenase 2 0.231921
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 0.229492
CNIH3 cornichon family AMPA receptor auxiliary protein 3 0.228185
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 0.225384
GLRA2 glycine receptor, alpha 2 0.225148
ACSBG2 acyl-CoA synthetase bubblegum family member 2 0.211399
PLXDC2 plexin domain containing 2 0.209926
ARHGAP24 Rho GTPase activating protein 24 0.208687
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 0.203638
SYNE1 spectrin repeat containing, nuclear envelope 1 0.201258
OTUD7A OTU deubiquitinase 7A 0.188669
TMEM71 transmembrane protein 71 0.178797
EPHA7 EPH receptor A7 0.177539
RTN4IP1 reticulon 4 interacting protein 1 0.173665
PDE10A phosphodiesterase 10A 0.17358
SHC4 SHC (Src homology 2 domain containing) family, member 4 0.17264
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 0.17264
MYT1L myelin transcription factor 1-like 0.16705
EDIL3 EGF-like repeats and discoidin I-like domains 3 0.166547
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 0.165541
CNTN1 contactin 1 0.165541
ADGRG2 adhesion G protein-coupled receptor G2 0.156612
GMDS GDP-mannose 4,6-dehydratase 0.156122
GAREM GRB2 associated, regulator of MAPK1 0.154657
ABLIM3 actin binding LIM protein family, member 3 0.15417
HECTD2 HECT domain containing E3 ubiquitin protein ligase 2 0.150568
ATP10B ATPase, class V, type 10B 0.143099
RNF111 ring finger protein 111 0.141518
DSCAM Down syndrome cell adhesion molecule 0.138377
LMTK2 lemur tyrosine kinase 2 0.133714
JKAMP JNK1/MAPK8-associated membrane protein 0.132686
GPHN gephyrin 0.132173
PRKCE protein kinase C, epsilon 0.130639
SGCZ sarcoglycan, zeta 0.128096
SNX16 sorting nexin 16 0.127589
MDH1B malate dehydrogenase 1B, NAD (soluble) 0.127589
ARPP21 cAMP-regulated phosphoprotein, 21kDa 0.117437
DLG2 discs, large homolog 2 (Drosophila) 0.110385
CACNG4 calcium channel, voltage-dependent, gamma subunit 4 0.109388
DGKB diacylglycerol kinase, beta 90kDa 0.103957
KLF12 Kruppel-like factor 12 0.102002
MTMR2 myotubularin related protein 2 0.101514
DNASE1L3 deoxyribonuclease I-like 3 0.098605
MSH3 mutS homolog 3 0.094763
MGAT4C MGAT4 family, member C 0.093808
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 0.093808
KIAA1328 KIAA1328 0.091165
IKZF2 IKAROS family zinc finger 2 (Helios) 0.091165
GRIK2 glutamate receptor, ionotropic, kainate 2 0.089416
PNLIPRP2 pancreatic lipase-related protein 2 0.088544
PID1 phosphotyrosine interaction domain containing 1 0.08811
STK31 serine/threonine kinase 31 0.085943
C3 complement component 3 0.085512
GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 0.08508
IL18RAP interleukin 18 receptor accessory protein 0.08422
GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 0.08422
ATP5G3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) 0.083361
KIAA1033 KIAA1033 0.082933
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.082933
CLVS1 clavesin 1 0.081224
SLC1A7 solute carrier family 1 (glutamate transporter), member 7 0.079948
SLC39A9 solute carrier family 39, member 9 0.078676
ERH enhancer of rudimentary homolog (Drosophila) 0.078676
CDH6 cadherin 6, type 2, K-cadherin (fetal kidney) 0.077831
BRIP1 BRCA1 interacting protein C-terminal helicase 1 0.077409
LMBRD1 LMBR1 domain containing 1 0.076987
VSTM4 V-set and transmembrane domain containing 4 0.075726
AOAH acyloxyacyl hydrolase (neutrophil) 0.070727
SMCO2 single-pass membrane protein with coiled-coil domains 2 0.070314
SPATS2L spermatogenesis associated, serine-rich 2-like 0.069489
CRNN cornulin 0.067315
CADPS2 Ca++-dependent secretion activator 2 0.066982
CHRM3 cholinergic receptor, muscarinic 3 0.066648
PCYT1B phosphate cytidylyltransferase 1, choline, beta 0.066316
RPRD2 regulation of nuclear pre-mRNA domain containing 2 0.065983
SLCO5A1 solute carrier organic anion transporter family, member 5A1 0.065983
UTRN utrophin 0.064656
CCDC129 coiled-coil domain containing 129 0.063664
GPC6 glypican 6 0.063664
NTF3 neurotrophin 3 0.062676
ACSBG1 acyl-CoA synthetase bubblegum family member 1 0.062347
LDB2 LIM domain binding 2 0.062347
IL18R1 interleukin 18 receptor 1 0.062347
PKN2 protein kinase N2 0.06038
HLA-DPA2 major histocompatibility complex, class II, DP alpha 2 (pseudogene) 0.06038
GALM galactose mutarotase (aldose 1-epimerase) 0.060053
RAB3B RAB3B, member RAS oncogene family 0.057776