malformation of the heart and great vessels Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0002564
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Genes

319 genes associated with the malformation of the heart and great vessels phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.699897
KIAA1755 KIAA1755 0.412858
CD46 CD46 molecule, complement regulatory protein 0.402769
CCDC141 coiled-coil domain containing 141 0.402769
SYT10 synaptotagmin X 0.394376
MAML3 mastermind-like 3 (Drosophila) 0.391442
FADS1 fatty acid desaturase 1 0.388453
ZNF385D zinc finger protein 385D 0.347846
SLC9A3R2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 0.340661
AKAP13 A kinase (PRKA) anchor protein 13 0.333473
ESRRG estrogen-related receptor gamma 0.321471
HSPB7 heat shock 27kDa protein family, member 7 (cardiovascular) 0.320906
CHRM2 cholinergic receptor, muscarinic 2 0.318077
EXT1 exostosin glycosyltransferase 1 0.315638
NKX2-5 NK2 homeobox 5 0.314944
HLA-B major histocompatibility complex, class I, B 0.313049
NRP1 neuropilin 1 0.311595
BAG3 BCL2-associated athanogene 3 0.311139
CSMD1 CUB and Sushi multiple domains 1 0.309261
PIEZO1 piezo-type mechanosensitive ion channel component 1 0.305797
CEP85L centrosomal protein 85kDa-like 0.304541
SLC17A3 solute carrier family 17 (organic anion transporter), member 3 0.303573
NRG1 neuregulin 1 0.299782
LPA lipoprotein, Lp(a) 0.299722
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.291218
REXO4 REX4, RNA exonuclease 4 homolog (S. cerevisiae) 0.2855
LINGO2 leucine rich repeat and Ig domain containing 2 0.285152
LAMA1 laminin, alpha 1 0.283148
FNDC3B fibronectin type III domain containing 3B 0.275166
ZBTB17 zinc finger and BTB domain containing 17 0.275166
RFX4 regulatory factor X, 4 (influences HLA class II expression) 0.270003
HECTD4 HECT domain containing E3 ubiquitin protein ligase 4 0.267121
GPC5 glypican 5 0.266721
NCAM1 neural cell adhesion molecule 1 0.264321
CPNE8 copine VIII 0.264321
SSFA2 sperm specific antigen 2 0.259143
RYR1 ryanodine receptor 1 (skeletal) 0.256762
NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit 0.253791
COL17A1 collagen, type XVII, alpha 1 0.251131
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.247996
MYLK myosin light chain kinase 0.246541
HCG22 HLA complex group 22 0.244166
TNNT2 troponin T type 2 (cardiac) 0.243228
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 0.243228
ZBTB16 zinc finger and BTB domain containing 16 0.241641
LOC100506901 0.239156
ATXN2 ataxin 2 0.236576
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 0.235449
IPMK inositol polyphosphate multikinase 0.235257
AXIN1 axin 1 0.234138
SH2B3 SH2B adaptor protein 3 0.233883
RUNX1 runt-related transcription factor 1 0.232958
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.231326
FAM149B1 family with sequence similarity 149, member B1 0.231158
ADD2 adducin 2 (beta) 0.231116
PDIA2 protein disulfide isomerase family A, member 2 0.230702
LMNTD2 lamin tail domain containing 2 0.228631
PDE11A phosphodiesterase 11A 0.227731
UTRN utrophin 0.227419
CERS6 ceramide synthase 6 0.227116
MAOA monoamine oxidase A 0.223195
DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 0.221524
PKD1L3 polycystic kidney disease 1-like 3 0.221507
RAF1 Raf-1 proto-oncogene, serine/threonine kinase 0.219728
MACROD2 MACRO domain containing 2 0.219674
FGF1 fibroblast growth factor 1 (acidic) 0.21848
CPNE5 copine V 0.217382
FAM133A family with sequence similarity 133, member A 0.217259
CD44 CD44 molecule (Indian blood group) 0.21693
CSF1R colony stimulating factor 1 receptor 0.216589
NTM neurotrimin 0.216402
IFIT1B interferon-induced protein with tetratricopeptide repeats 1B 0.215351
TMEM135 transmembrane protein 135 0.215268
PADI3 peptidyl arginine deiminase, type III 0.215187
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 0.214946
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 0.214712
STK36 serine/threonine kinase 36 0.214188
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 0.213093
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 0.212591
HTT-AS HTT antisense RNA (head to head) 0.212351
SLC35F1 solute carrier family 35, member F1 0.212351
WWOX WW domain containing oxidoreductase 0.212059
IL12B interleukin 12B 0.211832
RARRES1 retinoic acid receptor responder (tazarotene induced) 1 0.211448
ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 0.211183
CNKSR3 CNKSR family member 3 0.210676
ACTN4 actinin, alpha 4 0.210011
ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 0.210011
LDLRAD3 low density lipoprotein receptor class A domain containing 3 0.209609
FBXL17 F-box and leucine-rich repeat protein 17 0.207341
PAIP2B poly(A) binding protein interacting protein 2B 0.207065
DOCK9 dedicator of cytokinesis 9 0.20675
DLC1 DLC1 Rho GTPase activating protein 0.206445
CNTN5 contactin 5 0.206408
CD36 CD36 molecule (thrombospondin receptor) 0.206149
COL28A1 collagen, type XXVIII, alpha 1 0.206149
PRKCE protein kinase C, epsilon 0.205824
GIGYF1 GRB10 interacting GYF protein 1 0.205339
PTPN14 protein tyrosine phosphatase, non-receptor type 14 0.204713
ZNF204P zinc finger protein 204, pseudogene 0.204618
RBMS3 RNA binding motif, single stranded interacting protein 3 0.204214
FMN2 formin 2 0.204032
ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase 0.203678
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.203591
KIAA1715 KIAA1715 0.203364
FBXL18 F-box and leucine-rich repeat protein 18 0.203251
NUGGC nuclear GTPase, germinal center associated 0.203003
DYSF dysferlin 0.202472
EGFLAM EGF-like, fibronectin type III and laminin G domains 0.202446
CLCNKA chloride channel, voltage-sensitive Ka 0.201844
NPAS3 neuronal PAS domain protein 3 0.201722
UCK2 uridine-cytidine kinase 2 0.20132
PHF11 PHD finger protein 11 0.20058
LOC100507053 uncharacterized LOC100507053 0.20058
WISP1 WNT1 inducible signaling pathway protein 1 0.199568
SCML4 sex comb on midleg-like 4 (Drosophila) 0.199529
SCN11A sodium channel, voltage gated, type XI alpha subunit 0.198448
MORC1 MORC family CW-type zinc finger 1 0.1981
MTDH metadherin 0.197697
OSBP2 oxysterol binding protein 2 0.197089
MEST mesoderm specific transcript 0.196996
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1 0.19695
BCL2 B-cell CLL/lymphoma 2 0.19695
DCP1A decapping mRNA 1A 0.19695
NTRK3 neurotrophic tyrosine kinase, receptor, type 3 0.196138
SCD5 stearoyl-CoA desaturase 5 0.19583
SMAD3 SMAD family member 3 0.195734
MARCH1 membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0.195666
AKAP6 A kinase (PRKA) anchor protein 6 0.195652
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 0.194366
TMEM132D transmembrane protein 132D 0.194258
DAB2IP DAB2 interacting protein 0.194258
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.194258
TDP2 tyrosyl-DNA phosphodiesterase 2 0.194258
CLINT1 clathrin interactor 1 0.19407
FABP7 fatty acid binding protein 7, brain 0.193738
DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 0.193242
CA10 carbonic anhydrase X 0.193029
EFNA5 ephrin-A5 0.19282
KYNU kynureninase 0.192718
SHISA9 shisa family member 9 0.192616
ARRB1 arrestin, beta 1 0.192515
PRKG1 protein kinase, cGMP-dependent, type I 0.191287
ARMC2 armadillo repeat containing 2 0.191287
MAPK1 mitogen-activated protein kinase 1 0.191023
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 0.190432
ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 0.190269
FMN1 formin 1 0.189951
NCAM2 neural cell adhesion molecule 2 0.189873
DOCK4 dedicator of cytokinesis 4 0.189417
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 0.18898
MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 0.188358
APCDD1L adenomatosis polyposis coli down-regulated 1-like 0.188225
CYTH1 cytohesin 1 0.187835
CHD6 chromodomain helicase DNA binding protein 6 0.187217
CMYA5 cardiomyopathy associated 5 0.187038
KIAA1549L KIAA1549-like 0.186979
PIEZO2 piezo-type mechanosensitive ion channel component 2 0.186805
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.186299
KCNB2 potassium channel, voltage gated Shab related subfamily B, member 2 0.185816
ELAVL2 ELAV like neuron-specific RNA binding protein 2 0.185558
TP73 tumor protein p73 0.185306
WDR86 WD repeat domain 86 0.185256
LGALS4 lectin, galactoside-binding, soluble, 4 0.185157
CNPY3 canopy FGF signaling regulator 3 0.18506
PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta 0.184585
LDAH lipid droplet associated hydrolase 0.184446
MYO5B myosin VB 0.184265
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1 0.184175
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 0.184087
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 0.183696
CALCR calcitonin receptor 0.183696
NCEH1 neutral cholesterol ester hydrolase 1 0.183158
ULK4 unc-51 like kinase 4 0.182998
TK1 thymidine kinase 1, soluble 0.182801
PTK2 protein tyrosine kinase 2 0.182724
MAP2 microtubule-associated protein 2 0.18227
MYH11 myosin, heavy chain 11, smooth muscle 0.18227
VWC2L von Willebrand factor C domain containing protein 2-like 0.182087
ANKRD33B ankyrin repeat domain 33B 0.181979
MBD5 methyl-CpG binding domain protein 5 0.181836
CDH4 cadherin 4, type 1, R-cadherin (retinal) 0.181836
ZFPM2 zinc finger protein, FOG family member 2 0.181008
SCARA3 scavenger receptor class A, member 3 0.18047
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 0.179992
PARP12 poly (ADP-ribose) polymerase family, member 12 0.179798
SOX5 SRY (sex determining region Y)-box 5 0.179722
DPYD dihydropyrimidine dehydrogenase 0.179494
DMD dystrophin 0.179419
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.17916
VWA3B von Willebrand factor A domain containing 3B 0.177973
WBSCR17 Williams-Beuren syndrome chromosome region 17 0.177676
EBF1 early B-cell factor 1 0.177579
SLC38A8 solute carrier family 38, member 8 0.17745
RALYL RALY RNA binding protein-like 0.17726
TENM4 teneurin transmembrane protein 4 0.177166
SLC35F3 solute carrier family 35, member F3 0.176948
MCTP2 multiple C2 domains, transmembrane 2 0.176705
HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 0.176555
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7 0.176555
MCPH1 microcephalin 1 0.176377
SEZ6L seizure related 6 homolog (mouse)-like 0.176231
LOC145845 uncharacterized LOC145845 0.176115
KLHL21 kelch-like family member 21 0.176086
MTPN myotrophin 0.176029
GABRR1 gamma-aminobutyric acid (GABA) A receptor, rho 1 0.175662
SEC31B SEC31 homolog B (S. cerevisiae) 0.175415
C16ORF45 chromosome 16 open reading frame 45 0.175225
KLHL1 kelch-like family member 1 0.175198
TCF21 transcription factor 21 0.175092
ALK anaplastic lymphoma receptor tyrosine kinase 0.175092
NELL1 NEL-like 1 (chicken) 0.175065
TGFB2 transforming growth factor, beta 2 0.174933
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.174777
PPP6R1 protein phosphatase 6, regulatory subunit 1 0.174622
XDH xanthine dehydrogenase 0.174369
CHN1 chimerin 1 0.174195
TMEM87B transmembrane protein 87B 0.173853
CHN2 chimerin 2 0.173685
PPARD peroxisome proliferator-activated receptor delta 0.173473
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 0.173357
ITGA1 integrin, alpha 1 0.173334
NCOA1 nuclear receptor coactivator 1 0.173127
ERBB4 erb-b2 receptor tyrosine kinase 4 0.172969
MAP3K5 mitogen-activated protein kinase kinase kinase 5 0.172725
CACNB2 calcium channel, voltage-dependent, beta 2 subunit 0.172593
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) 0.172335
PPP2R2B protein phosphatase 2, regulatory subunit B, beta 0.172313
ITGA9 integrin, alpha 9 0.172292
SERPINB11 serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) 0.172228
HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12 0.172207
CYFIP2 cytoplasmic FMR1 interacting protein 2 0.171915
RAB40C RAB40C, member RAS oncogene family 0.171894
EML6 echinoderm microtubule associated protein like 6 0.171771
ACTA2 actin, alpha 2, smooth muscle, aorta 0.171549
SGCZ sarcoglycan, zeta 0.171389
ALG9 ALG9, alpha-1,2-mannosyltransferase 0.171193
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box) 0.170904
CDHR5 cadherin-related family member 5 0.170847
NKAIN2 Na+/K+ transporting ATPase interacting 2 0.170771
MPZL1 myelin protein zero-like 1 0.170715
C11ORF44 chromosome 11 open reading frame 44 0.170418
SPATA17 spermatogenesis associated 17 0.170272
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q 0.170236
SSUH2 ssu-2 homolog (C. elegans) 0.169933
LAMB1 laminin, beta 1 0.169585
PPM1H protein phosphatase, Mg2+/Mn2+ dependent, 1H 0.169568
LHFPL3 lipoma HMGIC fusion partner-like 3 0.169466
FAS Fas cell surface death receptor 0.169098
RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 0.169082
CDH18 cadherin 18, type 2 0.168661
TMEM232 transmembrane protein 232 0.16844
CAMK2D calcium/calmodulin-dependent protein kinase II delta 0.168393
TMEM258 transmembrane protein 258 0.168316
RNLS renalase, FAD-dependent amine oxidase 0.168285
ANTXR1 anthrax toxin receptor 1 0.168131
ZNF516 zinc finger protein 516 0.167919
GLRX3 glutaredoxin 3 0.16783
TNFRSF10D tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 0.167711
AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 0.167608
CLMN calmin (calponin-like, transmembrane) 0.167608
CPQ carboxypeptidase Q 0.167565
NCALD neurocalcin delta 0.16755
PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding) 0.167536
TRIM67 tripartite motif containing 67 0.167478
FGF13 fibroblast growth factor 13 0.167319
OPCML opioid binding protein/cell adhesion molecule-like 0.167191
DLG2 discs, large homolog 2 (Drosophila) 0.167135
GRM5 glutamate receptor, metabotropic 5 0.167121
VAV3 vav 3 guanine nucleotide exchange factor 0.167023
DCDC2 doublecortin domain containing 2 0.16672
ACYP2 acylphosphatase 2, muscle type 0.166625
TRPM5 transient receptor potential cation channel, subfamily M, member 5 0.166611
FAXC failed axon connections homolog (Drosophila) 0.166557
COL25A1 collagen, type XXV, alpha 1 0.166504
PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta 0.166437
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 0.166411
KCNIP4 Kv channel interacting protein 4 0.166278
FHIT fragile histidine triad 0.166213
LIN7A lin-7 homolog A (C. elegans) 0.166096
FADS2 fatty acid desaturase 2 0.165929
ZNF532 zinc finger protein 532 0.165903
GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 0.16469
TOPAZ1 testis and ovary specific PAZ domain containing 1 0.16469
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 0.163692
IDE insulin-degrading enzyme 0.163692
EYS eyes shut homolog (Drosophila) 0.163376
OSTM1 osteopetrosis associated transmembrane protein 1 0.162002
SHC4 SHC (Src homology 2 domain containing) family, member 4 0.161636
UBLCP1 ubiquitin-like domain containing CTD phosphatase 1 0.16102
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 0.160935
UGT3A2 UDP glycosyltransferase 3 family, polypeptide A2 0.160766
CAMK4 calcium/calmodulin-dependent protein kinase IV 0.160353
SPEG SPEG complex locus 0.160112
KIF26B kinesin family member 26B 0.159954
ADORA3 adenosine A3 receptor 0.15972
TBC1D2B TBC1 domain family, member 2B 0.159192
LOC100507462 uncharacterized LOC100507462 0.1582
NIPBL Nipped-B homolog (Drosophila) 0.157799
FLJ37453 uncharacterized LOC729614 0.156788
CRYAB crystallin, alpha B 0.156548
CENPO centromere protein O 0.155469
FBXW11 F-box and WD repeat domain containing 11 0.155415
SIPA1L1 signal-induced proliferation-associated 1 like 1 0.15499
FAM19A2 family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 0.154938
SCN10A sodium channel, voltage gated, type X alpha subunit 0.154529
POU2F1 POU class 2 homeobox 1 0.153892
FBXO38 F-box protein 38 0.153063
NACA nascent polypeptide-associated complex alpha subunit 0.152843
PRPF3 pre-mRNA processing factor 3 0.152669
NCKIPSD NCK interacting protein with SH3 domain 0.152329
ATRNL1 attractin-like 1 0.151877
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 0.146884
IP6K2 inositol hexakisphosphate kinase 2 0.146209
MMS19 MMS19 nucleotide excision repair homolog (S. cerevisiae) 0.145632
MSI1 musashi RNA-binding protein 1 0.141854
PPP4C protein phosphatase 4, catalytic subunit 0.138985
NAE1 NEDD8 activating enzyme E1 subunit 1 0.137029
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 0.13579