ventricular septal defect Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. (Human Disease Ontology, DOID_1657)
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Genes

289 genes co-occuring with the disease ventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
TBX1 T-box 1 1.97784
GATA4 GATA binding protein 4 1.7939
NKX2-5 NK2 homeobox 5 1.64711
ZFPM2 zinc finger protein, FOG family member 2 1.51281
CLTCL1 clathrin, heavy chain-like 1 1.42411
BMP10 bone morphogenetic protein 10 1.4057
TBX5 T-box 5 1.40176
CFC1 cripto, FRL-1, cryptic family 1 1.38603
SLC35B2 solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 1.35158
DEFB135 defensin, beta 135 1.26081
UNCX UNC homeobox 1.26081
ISL1 ISL LIM homeobox 1 1.25428
MEF2C myocyte enhancer factor 2C 1.2382
HIC2 hypermethylated in cancer 2 1.18453
HOMEZ homeobox and leucine zipper encoding 1.17593
TNNI3 troponin I type 3 (cardiac) 1.16307
COX16 COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) 1.1439
GATA6 GATA binding protein 6 1.12403
DEFB134 defensin, beta 134 1.12108
CA5B carbonic anhydrase VB, mitochondrial 1.11519
MYL12B myosin, light chain 12B, regulatory 1.11015
GDF1 growth differentiation factor 1 1.09923
UBTD2 ubiquitin domain containing 2 1.08286
MESP1 mesoderm posterior basic helix-loop-helix transcription factor 1 1.0816
ZNF74 zinc finger protein 74 1.07446
ATRNL1 attractin-like 1 1.05219
KLF10 Kruppel-like factor 10 1.0463
TLL1 tolloid-like 1 1.03535
VANGL2 VANGL planar cell polarity protein 2 1.03282
PITX2 paired-like homeodomain 2 1.02524
EXD2 exonuclease 3'-5' domain containing 2 1.02229
MECOM MDS1 and EVI1 complex locus 1.01385
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 0.9696
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 0.967502
HAND1 heart and neural crest derivatives expressed 1 0.966663
ADAM21 ADAM metallopeptidase domain 21 0.95996
SUSD6 sushi domain containing 6 0.957868
BLVRA biliverdin reductase A 0.956614
SLC39A9 solute carrier family 39, member 9 0.942858
TBX2 T-box 2 0.915963
LIMS1 LIM and senescent cell antigen-like domains 1 0.911433
PTCH1 patched 1 0.908142
SLN sarcolipin 0.892538
ADAM19 ADAM metallopeptidase domain 19 0.882701
SNRPA1 small nuclear ribonucleoprotein polypeptide A' 0.86059
RMND5A required for meiotic nuclear division 5 homolog A (S. cerevisiae) 0.86018
TUBA8 tubulin, alpha 8 0.857315
DCAF5 DDB1 and CUL4 associated factor 5 0.853221
FBXW11 F-box and WD repeat domain containing 11 0.851583
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.849126
TBX20 T-box 20 0.847898
MYH10 myosin, heavy chain 10, non-muscle 0.846669
NOTCH1 notch 1 0.836837
TOP3B topoisomerase (DNA) III beta 0.835198
CCNL2 cyclin L2 0.823308
CPLX4 complexin 4 0.821667
HEY2 hes-related family bHLH transcription factor with YRPW motif 2 0.808539
B3GAT3 beta-1,3-glucuronyltransferase 3 0.795411
ADO 2-aminoethanethiol (cysteamine) dioxygenase 0.793361
GALNT16 polypeptide N-acetylgalactosaminyltransferase 16 0.790492
SLC36A3 solute carrier family 36, member 3 0.783526
HIRA histone cell cycle regulator 0.783116
SYNJ2BP synaptojanin 2 binding protein 0.781479
TBX3 T-box 3 0.781069
FGF8 fibroblast growth factor 8 (androgen-induced) 0.765127
SOX4 SRY (sex determining region Y)-box 4 0.76431
PTER phosphotriesterase related 0.759416
MYH4 myosin, heavy chain 4, skeletal muscle 0.74761
RAB43 RAB43, member RAS oncogene family 0.744766
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 0.735433
RANBP17 RAN binding protein 17 0.728547
HAND2 heart and neural crest derivatives expressed 2 0.722886
DVL2 dishevelled segment polarity protein 2 0.716425
IRX4 iroquois homeobox 4 0.699919
MCM8 minichromosome maintenance complex component 8 0.692697
HOXC9 homeobox C9 0.692296
GJA1 gap junction protein, alpha 1, 43kDa 0.692296
TNNT2 troponin T type 2 (cardiac) 0.689092
MED13L mediator complex subunit 13-like 0.679898
NPPA natriuretic peptide A 0.660008
MKL2 MKL/myocardin-like 2 0.65763
ATE1 arginyltransferase 1 0.651298
PCSK6 proprotein convertase subtilisin/kexin type 6 0.646559
PLXNA2 plexin A2 0.639857
DDX39A DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A 0.635921
LMBRD1 LMBR1 domain containing 1 0.635135
MID1 midline 1 0.633563
ARID2 AT rich interactive domain 2 (ARID, RFX-like) 0.632777
MSX2 msh homeobox 2 0.63042
GJA5 gap junction protein, alpha 5, 40kDa 0.62728
CASZ1 castor zinc finger 1 0.620226
EVC Ellis van Creveld protein 0.612401
PAGE5 P antigen family, member 5 (prostate associated) 0.612401
MYH7 myosin, heavy chain 7, cardiac muscle, beta 0.608885
MSX1 msh homeobox 1 0.605372
FBN2 fibrillin 2 0.60303
ASXL2 additional sex combs like transcriptional regulator 2 0.60264
ZFPM1 zinc finger protein, FOG family member 1 0.60186
WNT1 wingless-type MMTV integration site family, member 1 0.590169
SOX11 SRY (sex determining region Y)-box 11 0.584719
SMOC1 SPARC related modular calcium binding 1 0.583941
JAG1 jagged 1 0.580828
EDN1 endothelin 1 0.575383
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.574994
TNNI2 troponin I type 2 (skeletal, fast) 0.569552
ATRN attractin 0.555568
DVL1 dishevelled segment polarity protein 1 0.553239
MYOCD myocardin 0.549359
NEIL2 nei endonuclease VIII-like 2 (E. coli) 0.542767
CPLX1 complexin 1 0.541605
TSPYL2 TSPY-like 2 0.537344
LEFTY1 left-right determination factor 1 0.535796
ERH enhancer of rudimentary homolog (Drosophila) 0.522659
SIVA1 SIVA1, apoptosis-inducing factor 0.521117
BMP4 bone morphogenetic protein 4 0.51919
PBX2 pre-B-cell leukemia homeobox 2 0.513033
ZIC3 Zic family member 3 0.512264
CDC45 cell division cycle 45 0.511496
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 0.511112
NPPB natriuretic peptide B 0.508041
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 0.506507
FABP3 fatty acid binding protein 3, muscle and heart 0.498085
GPX7 glutathione peroxidase 7 0.496175
NODAL nodal growth differentiation factor 0.493885
PBX3 pre-B-cell leukemia homeobox 3 0.490454
SRSF5 serine/arginine-rich splicing factor 5 0.488549
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 0.486266
PGRMC1 progesterone receptor membrane component 1 0.483224
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 0.482084
CHD7 chromodomain helicase DNA binding protein 7 0.474119
FOXH1 forkhead box H1 0.472982
NR2F1 nuclear receptor subfamily 2, group F, member 1 0.469576
STPG1 sperm-tail PG-rich repeat containing 1 0.463905
GPR132 G protein-coupled receptor 132 0.461639
GIN1 gypsy retrotransposon integrase 1 0.460883
SLC30A2 solute carrier family 30 (zinc transporter), member 2 0.453716
BMPR1A bone morphogenetic protein receptor, type IA 0.452962
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.449194
ACTN1 actinin, alpha 1 0.448817
RYR2 ryanodine receptor 2 (cardiac) 0.448817
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit 0.443547
MAP6 microtubule-associated protein 6 0.443547
ARR3 arrestin 3, retinal (X-arrestin) 0.442795
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 0.440914
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.440162
PIDD1 p53-induced death domain protein 1 0.439034
PLXNA1 plexin A1 0.439034
CS citrate synthase 0.435651
PFKL phosphofructokinase, liver 0.433772
DVL3 dishevelled segment polarity protein 3 0.431144
NDE1 nudE neurodevelopment protein 1 0.430768
LRRC38 leucine rich repeat containing 38 0.42814
GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like 0.42739
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 0.424014
EHMT1 euchromatic histone-lysine N-methyltransferase 1 0.420641
CPB1 carboxypeptidase B1 (tissue) 0.415398
MIRLET7E microRNA let-7e 0.41465
PAX3 paired box 3 0.412405
BIN2 bridging integrator 2 0.406798
DSCAM Down syndrome cell adhesion molecule 0.406798
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 0.402318
HSF4 heat shock transcription factor 4 0.401945
GLI3 GLI family zinc finger 3 0.400826
CDON cell adhesion associated, oncogene regulated 0.396353
SRF serum response factor (c-fos serum response element-binding transcription factor) 0.39598
EVC2 Ellis van Creveld syndrome 2 0.393001
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 0.371107
WRAP73 WD repeat containing, antisense to TP73 0.368518
RRBP1 ribosome binding protein 1 0.363347
BMP5 bone morphogenetic protein 5 0.361502
PDS5B PDS5 cohesin associated factor B 0.359657
NPAT nuclear protein, ataxia-telangiectasia locus 0.358551
NOX5 NADPH oxidase, EF-hand calcium binding domain 5 0.358183
IL10 interleukin 10 0.357446
FCN3 ficolin (collagen/fibrinogen domain containing) 3 0.356341
SHOC2 soc-2 suppressor of clear homolog (C. elegans) 0.354868
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.350452
TEF thyrotrophic embryonic factor 0.340906
GATA5 GATA binding protein 5 0.340539
KLHL17 kelch-like family member 17 0.337608
MDH2 malate dehydrogenase 2, NAD (mitochondrial) 0.336144
THBS4 thrombospondin 4 0.336144
PTF1A pancreas specific transcription factor, 1a 0.335412
MDH1 malate dehydrogenase 1, NAD (soluble) 0.321909
PLAGL1 pleiomorphic adenoma gene-like 1 0.317182
NR2F2 nuclear receptor subfamily 2, group F, member 2 0.313189
NTRK3 neurotrophic tyrosine kinase, receptor, type 3 0.313189
RERE arginine-glutamic acid dipeptide (RE) repeats 0.310652
SCO2 SCO2 cytochrome c oxidase assembly protein 0.310652
STK4 serine/threonine kinase 4 0.304864
F8 coagulation factor VIII, procoagulant component 0.30342
SHF Src homology 2 domain containing F 0.303059
IGBP1 immunoglobulin (CD79A) binding protein 1 0.299092
DICER1 dicer 1, ribonuclease type III 0.299092
GRB10 growth factor receptor-bound protein 10 0.292975
BCAR1 breast cancer anti-estrogen resistance 1 0.291898
TLX3 T-cell leukemia homeobox 3 0.290821
NPHP4 nephronophthisis 4 0.288668
GJC1 gap junction protein, gamma 1, 45kDa 0.28616
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 0.284013
ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 0.283655
FBLN1 fibulin 1 0.281153
IGLV3-10 immunoglobulin lambda variable 3-10 0.280439
PLN phospholamban 0.279724
SLC50A1 solute carrier family 50 (sugar efflux transporter), member 1 0.279724
CD3E CD3e molecule, epsilon (CD3-TCR complex) 0.27687
SLC19A1 solute carrier family 19 (folate transporter), member 1 0.274376
ZIC2 Zic family member 2 0.266558
HNF1B HNF1 homeobox B 0.265849
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial 0.26514
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) 0.254183
LCK LCK proto-oncogene, Src family tyrosine kinase 0.253127
ACVR1 activin A receptor, type I 0.251015
TGFBR1 transforming growth factor, beta receptor 1 0.246799
NDRG2 NDRG family member 2 0.245396
OR6B2 olfactory receptor, family 6, subfamily B, member 2 0.245046
INVS inversin 0.241895
DGCR8 DGCR8 microprocessor complex subunit 0.240497
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 0.239101
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 0.23666
G6PC2 glucose-6-phosphatase, catalytic, 2 0.233183
EPHB3 EPH receptor B3 0.231102
AGO2 argonaute RISC catalytic component 2 0.231102
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit 0.227988
IGF1 insulin-like growth factor 1 (somatomedin C) 0.223509
KRT83 keratin 83, type II 0.222136
ACE angiotensin I converting enzyme 0.22145
ACOT13 acyl-CoA thioesterase 13 0.217352
HOXA1 homeobox A1 0.217012
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) 0.213959
NRGN neurogranin (protein kinase C substrate, RC3) 0.211934
FGF9 fibroblast growth factor 9 0.209248
MMP9 matrix metallopeptidase 9 0.208579
MKKS McKusick-Kaufman syndrome 0.205916
PRB3 proline-rich protein BstNI subfamily 3 0.203604
RGS4 regulator of G-protein signaling 4 0.201308
MYEF2 myelin expression factor 2 0.199356
RYR1 ryanodine receptor 1 (skeletal) 0.197742
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.197099
HOXD13 homeobox D13 0.195501
ARHGEF16 Rho guanine nucleotide exchange factor (GEF) 16 0.194548
ASPH aspartate beta-hydroxylase 0.194548
FDFT1 farnesyl-diphosphate farnesyltransferase 1 0.191097
CLDN16 claudin 16 0.190168
PDLIM1 PDZ and LIM domain 1 0.187113
EED embryonic ectoderm development 0.186811
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 0.185612
RPIA ribose 5-phosphate isomerase A 0.182666
CTF1 cardiotrophin 1 0.181798
HAS2 hyaluronan synthase 2 0.180937
F7 coagulation factor VII (serum prothrombin conversion accelerator) 0.180084
HHEX hematopoietically expressed homeobox 0.179239
MED12 mediator complex subunit 12 0.177301
MYF5 myogenic factor 5 0.177029
AIP aryl hydrocarbon receptor interacting protein 0.175679
UBR5 ubiquitin protein ligase E3 component n-recognin 5 0.174617
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 0.174093
CR2 complement component (3d/Epstein Barr virus) receptor 2 0.172799
STAB2 stabilin 2 0.172291
CKM creatine kinase, muscle 0.169812
JMJD6 jumonji domain containing 6 0.165001
MNX1 motor neuron and pancreas homeobox 1 0.163729
LRP6 low density lipoprotein receptor-related protein 6 0.161523
AGTR1 angiotensin II receptor, type 1 0.160203
TRPV6 transient receptor potential cation channel, subfamily V, member 6 0.159302
STAT2 signal transducer and activator of transcription 2, 113kDa 0.158605
SIX3 SIX homeobox 3 0.158605
ARID1A AT rich interactive domain 1A (SWI-like) 0.158097
SSR1 signal sequence receptor, alpha 0.148419
FGF10 fibroblast growth factor 10 0.147127
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 0.146992
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 0.145998
ROCK1P1 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 0.145876
BANF1 barrier to autointegration factor 1 0.14559
HDAC4 histone deacetylase 4 0.145537
HDAC3 histone deacetylase 3 0.145157
EP300 E1A binding protein p300 0.145031
ROCK1 Rho-associated, coiled-coil containing protein kinase 1 0.145011
TAGLN transgelin 0.143878
B3GAT1 beta-1,3-glucuronyltransferase 1 0.143688
NOG noggin 0.14332
SDC2 syndecan 2 0.14329
CREBBP CREB binding protein 0.143095
GPC3 glypican 3 0.142611
RBFOX3 RNA binding protein, fox-1 homolog (C. elegans) 3 0.14219
GRB2 growth factor receptor-bound protein 2 0.142118
TRIM37 tripartite motif containing 37 0.141847
MYOG myogenin (myogenic factor 4) 0.141481
LCT lactase 0.141307