abnormal fetal atrioventricular canal morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the common canal connecting the primordial atrium and ventricle during fetal development; the dorsal and ventral endocardial cushions develop in the walls of the common atrioventricular canal, grow toward each other and fuse, dividing the common atrioventricular canal into right and left atrioventricular canals and the atrioventricular septum (Mammalian Phenotype Ontology, MP_0006107)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006107
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Genes

58 gene mutations causing the abnormal fetal atrioventricular canal morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACKR3 atypical chemokine receptor 3
ACVRL1 activin A receptor type II-like 1
ADAM19 ADAM metallopeptidase domain 19
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
BMP10 bone morphogenetic protein 10
CHD7 chromodomain helicase DNA binding protein 7
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CXADR coxsackie virus and adenovirus receptor
CYR61 cysteine-rich, angiogenic inducer, 61
DNAH5 dynein, axonemal, heavy chain 5
ECE1 endothelin converting enzyme 1
EPHA3 EPH receptor A3
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
FN1 fibronectin 1
FOXP1 forkhead box P1
GJA5 gap junction protein, alpha 5, 40kDa
GJC1 gap junction protein, gamma 1, 45kDa
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
HHEX hematopoietically expressed homeobox
HSPB11 heat shock protein family B (small), member 11
IFT27 intraflagellar transport 27
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INVS inversin
JUP junction plakoglobin
KLF3 Kruppel-like factor 3 (basic)
MAP2K5 mitogen-activated protein kinase kinase 5
MYL7 myosin, light chain 7, regulatory
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NKX2-5 NK2 homeobox 5
NOV nephroblastoma overexpressed
NRG1 neuregulin 1
OSR1 odd-skipped related transciption factor 1
PDPN podoplanin
PEPD peptidase D
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRJ protein tyrosine phosphatase, receptor type, J
RXRA retinoid X receptor, alpha
SENP2 SUMO1/sentrin/SMT3 specific peptidase 2
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMAD7 SMAD family member 7
TBX1 T-box 1
TBX2 T-box 2
TBX3 T-box 3
TBX5 T-box 5
TGFB2 transforming growth factor, beta 2
TLL1 tolloid-like 1
TMOD1 tropomodulin 1
TNNT2 troponin T type 2 (cardiac)
VCAN versican
VCL vinculin
ZFPM2 zinc finger protein, FOG family member 2