atrioventricular septal defect Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. (Human Disease Ontology, DOID_0050651)
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Genes

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

Symbol Name Standardized Value
CRELD1 cysteine-rich with EGF-like domains 1 2.38712
DEFB135 defensin, beta 135 1.76637
DEFB134 defensin, beta 134 1.61933
ACP6 acid phosphatase 6, lysophosphatidic 1.3987
LIMS1 LIM and senescent cell antigen-like domains 1 1.3987
PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit 1.26821
CLTCL1 clathrin, heavy chain-like 1 1.25994
DHCR7 7-dehydrocholesterol reductase 1.24341
BLVRA biliverdin reductase A 1.17636
ZNF74 zinc finger protein 74 1.15198
LRRN1 leucine rich repeat neuronal 1 1.13289
SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 1.10594
GATA4 GATA binding protein 4 1.09545
TBX1 T-box 1 1.0648
TBX5 T-box 5 1.01469
NEIL2 nei endonuclease VIII-like 2 (E. coli) 1.00457
GTF2IRD1 GTF2I repeat domain containing 1 0.960378
GATA6 GATA binding protein 6 0.947019
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 0.944106
ZIC3 Zic family member 3 0.934141
LRCH4 leucine-rich repeats and calponin homology (CH) domain containing 4 0.926279
SLC30A2 solute carrier family 30 (zinc transporter), member 2 0.90732
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 0.886799
CNTN4 contactin 4 0.876966
EVC Ellis van Creveld protein 0.874509
FBLN2 fibulin 2 0.847488
BCL9 B-cell CLL/lymphoma 9 0.847078
ERAS ES cell expressed Ras 0.844211
PTER phosphotriesterase related 0.816334
FOXF1 forkhead box F1 0.792541
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 0.77575
NR2F2 nuclear receptor subfamily 2, group F, member 2 0.752085
PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1 0.712796
SLC19A1 solute carrier family 19 (folate transporter), member 1 0.708364
BCOR BCL6 corepressor 0.6939
GJA5 gap junction protein, alpha 5, 40kDa 0.682294
HEY2 hes-related family bHLH transcription factor with YRPW motif 2 0.667947
CHD1L chromodomain helicase DNA binding protein 1-like 0.650113
MKKS McKusick-Kaufman syndrome 0.630027
PRB3 proline-rich protein BstNI subfamily 3 0.62728
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.615529
SNAI1 snail family zinc finger 1 0.613574
FDFT1 farnesyl-diphosphate farnesyltransferase 1 0.612011
RPIA ribose 5-phosphate isomerase A 0.60108
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.591727
GREM2 gremlin 2, DAN family BMP antagonist 0.561004
BMPR1A bone morphogenetic protein receptor, type IA 0.557509
TIMP4 TIMP metallopeptidase inhibitor 4 0.533475
SLC35B2 solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 0.522659
FOXP1 forkhead box P1 0.51842
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like 0.517649
TNC tenascin C 0.496175
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.476014
ISL1 ISL LIM homeobox 1 0.463905
SHH sonic hedgehog 0.42664
ATRX alpha thalassemia/mental retardation syndrome X-linked 0.417644
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 0.37555
ELN elastin 0.369258
LIG3 ligase III, DNA, ATP-dependent 0.351555
GIN1 gypsy retrotransposon integrase 1 0.321181
CDH5 cadherin 5, type 2 (vascular endothelium) 0.309566
FOXP2 forkhead box P2 0.299092
JAG1 jagged 1 0.290462
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 0.287235
GPC3 glypican 3 0.276158
PLAT plasminogen activator, tissue 0.273664
BIN2 bridging integrator 2 0.269398
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 0.24715
NPPA natriuretic peptide A 0.23666
BMP4 bone morphogenetic protein 4 0.234225
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 0.233878
FLNA filamin A, alpha 0.203275
ACAN aggrecan 0.193285
CKAP5 cytoskeleton associated protein 5 0.181222
RUNX1 runt-related transcription factor 1 0.168617
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 0.163111
CBS cystathionine-beta-synthase 0.158434