vascular ring Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails. (Human Phenotype Ontology, HP_0010775)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010466
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Genes

23 gene mutations causing the vascular ring phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
CCDC39 coiled-coil domain containing 39
CFC1 cripto, FRL-1, cryptic family 1
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CXCR4 chemokine (C-X-C motif) receptor 4
DNAH11 dynein, axonemal, heavy chain 11
DNM2 dynamin 2
ECE1 endothelin converting enzyme 1
EDNRA endothelin receptor type A
EYA1 EYA transcriptional coactivator and phosphatase 1
IFT27 intraflagellar transport 27
INVS inversin
LRP2 low density lipoprotein receptor-related protein 2
LTBP1 latent transforming growth factor beta binding protein 1
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NRP1 neuropilin 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PITX2 paired-like homeodomain 2
PRDM1 PR domain containing 1, with ZNF domain
TBC1D32 TBC1 domain family, member 32
TBX1 T-box 1
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
Funding