atrial heart septal defect Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description Xref MGI. (Human Disease Ontology, DOID_1882)
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Genes

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

Symbol Name Standardized Value
NKX2-5 NK2 homeobox 5 2.02205
GATA4 GATA binding protein 4 1.79976
TBX5 T-box 5 1.71499
CLNK cytokine-dependent hematopoietic cell linker 1.601
NMT1 N-myristoyltransferase 1 1.55513
TLL1 tolloid-like 1 1.31056
F5 coagulation factor V (proaccelerin, labile factor) 1.3027
GOLPH3 golgi phosphoprotein 3 (coat-protein) 1.23082
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13 1.2018
COX16 COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) 1.18582
RBM10 RNA binding motif protein 10 1.1635
TBX20 T-box 20 1.14093
ECI1 enoyl-CoA delta isomerase 1 1.11772
TBX1 T-box 1 1.10468
EXD2 exonuclease 3'-5' domain containing 2 1.06354
NPPA natriuretic peptide A 1.06228
IPPK inositol 1,3,4,5,6-pentakisphosphate 2-kinase 1.01934
CFC1 cripto, FRL-1, cryptic family 1 1.01723
STX18 syntaxin 18 1.01216
ADAM21 ADAM metallopeptidase domain 21 1.00161
SUSD6 sushi domain containing 6 0.999503
TNNI3 troponin I type 3 (cardiac) 0.996127
ELMOD2 ELMO/CED-12 domain containing 2 0.991487
SLC39A9 solute carrier family 39, member 9 0.9839
PPP1R14C protein phosphatase 1, regulatory (inhibitor) subunit 14C 0.95996
GATA6 GATA binding protein 6 0.939534
MEGF9 multiple EGF-like-domains 9 0.93497
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.932898
PTER phosphotriesterase related 0.93207
F2 coagulation factor II (thrombin) 0.929173
POLL polymerase (DNA directed), lambda 0.924626
G6PC3 glucose 6 phosphatase, catalytic, 3 0.919673
FBXW4 F-box and WD repeat domain containing 4 0.917611
SNRPA1 small nuclear ribonucleoprotein polypeptide A' 0.900746
DCAF5 DDB1 and CUL4 associated factor 5 0.893359
EVC Ellis van Creveld protein 0.890898
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.889258
PCDH18 protocadherin 18 0.882701
NOTCH1 notch 1 0.879833
SLC35B2 solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 0.862228
PLAT plasminogen activator, tissue 0.851992
GALNT16 polypeptide N-acetylgalactosaminyltransferase 16 0.830689
HIRA histone cell cycle regulator 0.823718
SYNJ2BP synaptojanin 2 binding protein 0.821667
TARP TCR gamma alternate reading frame protein 0.817976
TBX6 T-box 6 0.814283
ZFPM2 zinc finger protein, FOG family member 2 0.790492
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 0.781479
CPB1 carboxypeptidase B1 (tissue) 0.772887
ACTC1 actin, alpha, cardiac muscle 1 0.765127
BARX1 BARX homeobox 1 0.74883
CKAP2 cytoskeleton associated protein 2 0.74761
PTCH1 patched 1 0.742329
PTF1A pancreas specific transcription factor, 1a 0.742329
TMOD1 tropomodulin 1 0.712796
GRAP GRB2-related adaptor protein 0.699116
GLRB glycine receptor, beta 0.698715
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 0.69751
MNX1 motor neuron and pancreas homeobox 1 0.680697
F12 coagulation factor XII (Hageman factor) 0.676308
FOXC1 forkhead box C1 0.675909
KLF10 Kruppel-like factor 10 0.674713
NSD1 nuclear receptor binding SET domain protein 1 0.667947
HAND2 heart and neural crest derivatives expressed 2 0.663578
FOXD3 forkhead box D3 0.657234
CELF4 CUGBP, Elav-like family member 4 0.651298
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 0.643797
MECOM MDS1 and EVI1 complex locus 0.643797
NEBL nebulette 0.643404
FBN2 fibrillin 2 0.641827
KIF27 kinesin family member 27 0.639857
SPOCK1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 0.631598
SETD7 SET domain containing (lysine methyltransferase) 7 0.63042
SMOC1 SPARC related modular calcium binding 1 0.622575
RFX6 regulatory factor X, 6 0.606152
YME1L1 YME1-like 1 ATPase 0.597181
DHDH dihydrodiol dehydrogenase (dimeric) 0.594843
PRAMEF10 PRAME family member 10 0.590169
DCAF17 DDB1 and CUL4 associated factor 17 0.581996
FBXO8 F-box protein 8 0.581217
MAN2C1 mannosidase, alpha, class 2C, member 1 0.580828
TSPYL2 TSPY-like 2 0.575772
SNAPIN SNAP-associated protein 0.572662
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4 0.571884
ERH enhancer of rudimentary homolog (Drosophila) 0.560616
F3 coagulation factor III (thromboplastin, tissue factor) 0.559062
SLN sarcolipin 0.547807
USO1 USO1 vesicle transport factor 0.540829
DTNA dystrobrevin, alpha 0.530768
STRADA STE20-related kinase adaptor alpha 0.530381
HES5 hes family bHLH transcription factor 5 0.528835
SRSF5 serine/arginine-rich splicing factor 5 0.526132
LTBP4 latent transforming growth factor beta binding protein 4 0.521502
ZIC3 Zic family member 3 0.51611
NOTCH3 notch 3 0.509192
PROS1 protein S (alpha) 0.506507
CHM choroideremia (Rab escort protein 1) 0.503441
RMI1 RecQ mediated genome instability 1 0.503058
GIN1 gypsy retrotransposon integrase 1 0.498467
TGFBR1 transforming growth factor, beta receptor 1 0.48893
F8 coagulation factor VIII, procoagulant component 0.48893
ACVR2B activin A receptor, type IIB 0.486266
ACTN1 actinin, alpha 1 0.485885
FOXQ1 forkhead box Q1 0.482844
MAP6 microtubule-associated protein 6 0.480945
NOTCH4 notch 4 0.480186
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.476014
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2 0.471846
CNTN4 contactin 4 0.462772
EDN1 endothelin 1 0.458996
WRNIP1 Werner helicase interacting protein 1 0.449947
ADRA2B adrenoceptor alpha 2B 0.446558
BIN3 bridging integrator 3 0.444676
WNT5B wingless-type MMTV integration site family, member 5B 0.443171
NOTO notochord homeobox 0.441666
AXL AXL receptor tyrosine kinase 0.439786
PQBP1 polyglutamine binding protein 1 0.436026
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 0.434148
ADO 2-aminoethanethiol (cysteamine) dioxygenase 0.431519
EVC2 Ellis van Creveld syndrome 2 0.429642
HTR1F 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 0.418394
THOP1 thimet oligopeptidase 1 0.409787
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 0.409414
AURKAIP1 aurora kinase A interacting protein 1 0.407172
ACVRL1 activin A receptor type II-like 1 0.401199
RRBP1 ribosome binding protein 1 0.399707
HAND1 heart and neural crest derivatives expressed 1 0.397843
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 0.394491
SMC1A structural maintenance of chromosomes 1A 0.383337
F7 coagulation factor VII (serum prothrombin conversion accelerator) 0.382223
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 0.379997
CLCA4 chloride channel accessory 4 0.378143
GATA5 GATA binding protein 5 0.376661
POMP proteasome maturation protein 0.365562
SMC3 structural maintenance of chromosomes 3 0.356341
FOXF1 forkhead box F1 0.352659
PABPC1 poly(A) binding protein, cytoplasmic 1 0.348246
TBX2 T-box 2 0.346777
UBQLN1 ubiquilin 1 0.34384
CLCA2 chloride channel accessory 2 0.337608
ALB albumin 0.335046
DCT dopachrome tautomerase 0.332121
HHIP hedgehog interacting protein 0.331025
BCOR BCL6 corepressor 0.3292
RAD21 RAD21 homolog (S. pombe) 0.32701
BAGE2 B melanoma antigen family, member 2 0.321181
PCSK6 proprotein convertase subtilisin/kexin type 6 0.32009
IGLV3-10 immunoglobulin lambda variable 3-10 0.315729
PLN phospholamban 0.315003
HDAC8 histone deacetylase 8 0.313915
PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1 0.313552
S1PR3 sphingosine-1-phosphate receptor 3 0.309928
HNF1B HNF1 homeobox B 0.300894
RSPO1 R-spondin 1 0.294053
PDZK1IP1 PDZK1 interacting protein 1 0.278297
INVS inversin 0.276514
MAVS mitochondrial antiviral signaling protein 0.274732
FHL1 four and a half LIM domains 1 0.274021
HRAS Harvey rat sarcoma viral oncogene homolog 0.266203
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 0.264431
PPP1R12A protein phosphatase 1, regulatory subunit 12A 0.263722
NANP N-acetylneuraminic acid phosphatase 0.261245
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 0.257005
NPPB natriuretic peptide B 0.252422
SOX17 SRY (sex determining region Y)-box 17 0.249608
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 0.247501
HEY2 hes-related family bHLH transcription factor with YRPW motif 2 0.241895
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 0.241546
BRAF B-Raf proto-oncogene, serine/threonine kinase 0.241196
CDK11A cyclin-dependent kinase 11A 0.23666
PDGFC platelet derived growth factor C 0.23353
CLCA1 chloride channel accessory 1 0.233183
TBX3 T-box 3 0.229024
MATN3 matrilin 3 0.223853
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 0.220766
GZMM granzyme M (lymphocyte met-ase 1) 0.215992
AKAP13 A kinase (PRKA) anchor protein 13 0.214297
NIPBL Nipped-B homolog (Drosophila) 0.214297
TREX1 three prime repair exonuclease 1 0.212608
HNRNPK heterogeneous nuclear ribonucleoprotein K 0.208245
CA2 carbonic anhydrase II 0.205254
STAB2 stabilin 2 0.201308
HEY1 hes-related family bHLH transcription factor with YRPW motif 1 0.196459
GRIA2 glutamate receptor, ionotropic, AMPA 2 0.196459
SBDS Shwachman-Bodian-Diamond syndrome 0.1936
CALCA calcitonin-related polypeptide alpha 0.188632
MEGF6 multiple EGF-like-domains 6 0.182957
GREM2 gremlin 2, DAN family BMP antagonist 0.181222
FICD FIC domain containing 0.174093
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) 0.16933
PRIMA1 proline rich membrane anchor 1 0.168148
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 0.167452
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 0.165874
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD) 0.159838
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.159838
BMPR1A bone morphogenetic protein receptor, type IA 0.158605
A1BG alpha-1-B glycoprotein 0.144558
SRI sorcin 0.144423
SKP1 S-phase kinase-associated protein 1 0.144
WAPAL wings apart-like homolog (Drosophila) 0.14391
CYB5A cytochrome b5 type A (microsomal) 0.143626
OR10T2 olfactory receptor, family 10, subfamily T, member 2 0.143278
MAN1A1 mannosidase, alpha, class 1A, member 1 0.143002
IARS isoleucyl-tRNA synthetase 0.142948
WDFY2 WD repeat and FYVE domain containing 2 0.142501
MCM8 minichromosome maintenance complex component 8 0.142387
F10 coagulation factor X 0.141699