Atrioventricular Septal Defect Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C1389018
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Genes

56 genes associated with the disease Atrioventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACVR1 activin A receptor, type I
ANKRD11 ankyrin repeat domain 11
AUTS2 autism susceptibility candidate 2
BAZ2B bromodomain adjacent to zinc finger domain, 2B
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
CASP3 caspase 3, apoptosis-related cysteine peptidase
CDC45 cell division cycle 45
CEMIP2 cell migration inducing hyaluronidase 2
CHD7 chromodomain helicase DNA binding protein 7
CHDH choline dehydrogenase
CRELD1 cysteine-rich with EGF-like domains 1
ETV5 ets variant 5
FOXP1 forkhead box P1
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GJA1 gap junction protein, alpha 1, 43kDa
HAND2 heart and neural crest derivatives expressed 2
HDAC8 histone deacetylase 8
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HYLS1 hydrolethalus syndrome 1
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IL1B interleukin 1, beta
INTU inturned planar cell polarity protein
KIAA2022 KIAA2022
MDM4 MDM4, p53 regulator
MED12 mediator complex subunit 12
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MYL7 myosin, light chain 7, regulatory
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NKX2-5 NK2 homeobox 5
NKX2-6 NK2 homeobox 6
NPNT nephronectin
PITX2 paired-like homeodomain 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
RBM24 RNA binding motif protein 24
RUNX2 runt-related transcription factor 2
SALL4 spalt-like transcription factor 4
SLC19A1 solute carrier family 19 (folate transporter), member 1
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNAI1 snail family zinc finger 1
SOX9 SRY (sex determining region Y)-box 9
TAMM41 TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)
TBX1 T-box 1
TBX2 T-box 2
TBX5 T-box 5
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TRIO trio Rho guanine nucleotide exchange factor
WDPCP WD repeat containing planar cell polarity effector
ZIC3 Zic family member 3