double outlet right ventricle Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_6406)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000284
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Genes

92 gene mutations causing the double outlet right ventricle phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
AIP aryl hydrocarbon receptor interacting protein
AP2B1 adaptor-related protein complex 2, beta 1 subunit
ARMC4 armadillo repeat containing 4
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BICC1 BicC family RNA binding protein 1
C1ORF127 chromosome 1 open reading frame 127
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CCDC39 coiled-coil domain containing 39
CEP290 centrosomal protein 290kDa
CFC1 cripto, FRL-1, cryptic family 1
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CNTRL centriolin
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
DAAM1 dishevelled associated activator of morphogenesis 1
DCTN5 dynactin 5 (p25)
DHRS3 dehydrogenase/reductase (SDR family) member 3
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNM2 dynamin 2
DVL2 dishevelled segment polarity protein 2
DVL3 dishevelled segment polarity protein 3
DYX1C1 dyslexia susceptibility 1 candidate 1
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
FLNA filamin A, alpha
FOXP1 forkhead box P1
GATA4 GATA binding protein 4
GBX2 gastrulation brain homeobox 2
GJA5 gap junction protein, alpha 5, 40kDa
GPC3 glypican 3
HHEX hematopoietically expressed homeobox
HSPB11 heat shock protein family B (small), member 11
IFT27 intraflagellar transport 27
IFT74 intraflagellar transport 74
INVS inversin
JARID2 jumonji, AT rich interactive domain 2
JMJD6 jumonji domain containing 6
KIF7 kinesin family member 7
LEFTY1 left-right determination factor 1
LEFTY2 left-right determination factor 2
LTBP1 latent transforming growth factor beta binding protein 1
LUZP1 leucine zipper protein 1
MEGF8 multiple EGF-like-domains 8
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MKL2 MKL/myocardin-like 2
MYH10 myosin, heavy chain 10, non-muscle
NEK8 NIMA-related kinase 8
NF1 neurofibromin 1
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
PAX3 paired box 3
PCSK5 proprotein convertase subtilisin/kexin type 5
PCSK6 proprotein convertase subtilisin/kexin type 6
PDS5A PDS5 cohesin associated factor A
PIFO primary cilia formation
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLXND1 plexin D1
PNN pinin, desmosome associated protein
PRDM1 PR domain containing 1, with ZNF domain
PRICKLE1 prickle homolog 1 (Drosophila)
PSEN1 presenilin 1
PSKH1 protein serine kinase H1
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RERE arginine-glutamic acid dipeptide (RE) repeats
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
RXRA retinoid X receptor, alpha
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SMAD6 SMAD family member 6
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SNX17 sorting nexin 17
SOX11 SRY (sex determining region Y)-box 11
SSR1 signal sequence receptor, alpha
SUFU suppressor of fused homolog (Drosophila)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TBC1D32 TBC1 domain family, member 32
TBX1 T-box 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TLL1 tolloid-like 1
TMEM67 transmembrane protein 67
VANGL2 VANGL planar cell polarity protein 2
ZBTB14 zinc finger and BTB domain containing 14
ZFPM2 zinc finger protein, FOG family member 2
ZIC3 Zic family member 3