right aortic arch Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Aorta descends on right instead of on the left. (Human Phenotype Ontology, HP_0012020)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004158
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Genes

38 gene mutations causing the right aortic arch phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
AP2B1 adaptor-related protein complex 2, beta 1 subunit
ARMC4 armadillo repeat containing 4
ATMIN ATM interactor
C5ORF42 chromosome 5 open reading frame 42
CFC1 cripto, FRL-1, cryptic family 1
CHRD chordin
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CXCR4 chemokine (C-X-C motif) receptor 4
DNAAF3 dynein, axonemal, assembly factor 3
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
FUZ fuzzy planar cell polarity protein
GBX2 gastrulation brain homeobox 2
HOXA1 homeobox A1
IFT140 intraflagellar transport 140
INVS inversin
JUN jun proto-oncogene
LEFTY1 left-right determination factor 1
LRP2 low density lipoprotein receptor-related protein 2
LTBP1 latent transforming growth factor beta binding protein 1
MEGF8 multiple EGF-like-domains 8
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MKL2 MKL/myocardin-like 2
MKS1 Meckel syndrome, type 1
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NRP1 neuropilin 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PITX2 paired-like homeodomain 2
PLXND1 plexin D1
PRDM1 PR domain containing 1, with ZNF domain
RERE arginine-glutamic acid dipeptide (RE) repeats
TBC1D32 TBC1 domain family, member 32
TBX1 T-box 1
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
ZIC3 Zic family member 3