abnormal atrioventricular cushion morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices and the atrioventricular septum (Mammalian Phenotype Ontology, MP_0000297)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000297
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54 gene mutations causing the abnormal atrioventricular cushion 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
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
TBX2 T-box 2
TBX5 T-box 5
TGFB2 transforming growth factor, beta 2
TLL1 tolloid-like 1
TNNT2 troponin T type 2 (cardiac)
VCAN versican
VCL vinculin
ZFPM2 zinc finger protein, FOG family member 2