overriding aortic valve Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000273
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Genes

37 gene mutations causing the overriding aortic valve phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACKR3 atypical chemokine receptor 3
ADAM19 ADAM metallopeptidase domain 19
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
AP2B1 adaptor-related protein complex 2, beta 1 subunit
CCDC39 coiled-coil domain containing 39
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
DAW1 dynein assembly factor with WDR repeat domains 1
DCTN5 dynactin 5 (p25)
DNM2 dynamin 2
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
FBLN1 fibulin 1
FGF19 fibroblast growth factor 19
FGFR2 fibroblast growth factor receptor 2
GBX2 gastrulation brain homeobox 2
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HOXA1 homeobox A1
HSPB11 heat shock protein family B (small), member 11
KAT6A K(lysine) acetyltransferase 6A
KIF7 kinesin family member 7
MYH10 myosin, heavy chain 10, non-muscle
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NTF3 neurotrophin 3
PHC1 polyhomeotic homolog 1 (Drosophila)
SMAD6 SMAD family member 6
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SNX17 sorting nexin 17
SUFU suppressor of fused homolog (Drosophila)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TBC1D32 TBC1 domain family, member 32
TRIP11 thyroid hormone receptor interactor 11
VEGFA vascular endothelial growth factor A
ZFPM2 zinc finger protein, FOG family member 2