Atrioventricular Canal Defect Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1389016
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Genes

54 genes associated with the disease Atrioventricular Canal 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
ACVR2B activin A receptor, type IIB
AUTS2 autism susceptibility candidate 2
BMPR1A bone morphogenetic protein receptor, type IA
BRAF B-Raf proto-oncogene, serine/threonine kinase
CCDC22 coiled-coil domain containing 22
CEP120 centrosomal protein 120kDa
CFC1 cripto, FRL-1, cryptic family 1
CHD7 chromodomain helicase DNA binding protein 7
CHDH choline dehydrogenase
CRELD1 cysteine-rich with EGF-like domains 1
DHCR7 7-dehydrocholesterol reductase
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EGF epidermal growth factor
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FANCB Fanconi anemia, complementation group B
FLNA filamin A, alpha
FOXF1 forkhead box F1
FOXF2 forkhead box F2
FOXP1 forkhead box P1
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GJA1 gap junction protein, alpha 1, 43kDa
GLI1 GLI family zinc finger 1
GLI3 GLI family zinc finger 3
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
IFT27 intraflagellar transport 27
IFT88 intraflagellar transport 88
IL1B interleukin 1, beta
KAT6B K(lysine) acetyltransferase 6B
KIAA2022 KIAA2022
LONP1 lon peptidase 1, mitochondrial
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MDM4 MDM4, p53 regulator
MKS1 Meckel syndrome, type 1
MMP21 matrix metallopeptidase 21
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
NEK1 NIMA-related kinase 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NKX2-5 NK2 homeobox 5
NR2F2 nuclear receptor subfamily 2, group F, member 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
SHF Src homology 2 domain containing F
SLC19A1 solute carrier family 19 (folate transporter), member 1
TAMM41 TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)
TBX1 T-box 1
TBX5 T-box 5
VEGFA vascular endothelial growth factor A
WASHC5 WASH complex subunit 5
ZIC3 Zic family member 3