abnormal heart and great vessel attachment Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the in the position or pattern of the connection site of the heart to any of the primary vessels, including the superior vena cavae, inferior vena cavae, pulmonary artery, pulmonary veins, and aorta (Mammalian Phenotype Ontology, MP_0010425)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010425
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Genes

136 gene mutations causing the abnormal heart and great vessel attachment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACKR3 atypical chemokine receptor 3
ACVR2B activin A receptor, type IIB
ADAM19 ADAM metallopeptidase domain 19
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
AIP aryl hydrocarbon receptor interacting protein
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
AP2B1 adaptor-related protein complex 2, beta 1 subunit
ARMC4 armadillo repeat containing 4
ATE1 arginyltransferase 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BICC1 BicC family RNA binding protein 1
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
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
CHRD chordin
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
DAW1 dynein assembly factor with WDR repeat domains 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
DRC1 dynein regulatory complex subunit 1
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
FOXJ1 forkhead box J1
FOXP1 forkhead box P1
FUZ fuzzy planar cell polarity protein
GATA4 GATA binding protein 4
GBX2 gastrulation brain homeobox 2
GDF1 growth differentiation factor 1
GJA5 gap junction protein, alpha 5, 40kDa
GPC3 glypican 3
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHEX hematopoietically expressed homeobox
HOXA1 homeobox A1
HOXA3 homeobox A3
HSPB11 heat shock protein family B (small), member 11
HSPG2 heparan sulfate proteoglycan 2
IFT140 intraflagellar transport 140
IFT27 intraflagellar transport 27
IFT74 intraflagellar transport 74
IFT88 intraflagellar transport 88
INVS inversin
JARID2 jumonji, AT rich interactive domain 2
JMJD6 jumonji domain containing 6
JUN jun proto-oncogene
KAT6A K(lysine) acetyltransferase 6A
KIF7 kinesin family member 7
LEFTY1 left-right determination factor 1
LEFTY2 left-right determination factor 2
LRP1 low density lipoprotein receptor-related protein 1
LRP2 low density lipoprotein receptor-related protein 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
MKS1 Meckel syndrome, type 1
MMP21 matrix metallopeptidase 21
MYH10 myosin, heavy chain 10, non-muscle
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEK8 NIMA-related kinase 8
NF1 neurofibromin 1
NODAL nodal growth differentiation factor
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NRP1 neuropilin 1
NTF3 neurotrophin 3
NXN nucleoredoxin
PARVA parvin, alpha
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PAX3 paired box 3
PCSK5 proprotein convertase subtilisin/kexin type 5
PCSK6 proprotein convertase subtilisin/kexin type 6
PDPN podoplanin
PDS5A PDS5 cohesin associated factor A
PHC1 polyhomeotic homolog 1 (Drosophila)
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
RDH10 retinol dehydrogenase 10 (all-trans)
RERE arginine-glutamic acid dipeptide (RE) repeats
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RXRA retinoid X receptor, alpha
SEC24B SEC24 family member B
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SMAD6 SMAD family member 6
SMAD7 SMAD family member 7
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
SOX4 SRY (sex determining region Y)-box 4
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
TGFBR3 transforming growth factor, beta receptor III
TLL1 tolloid-like 1
TMEM67 transmembrane protein 67
TRIP11 thyroid hormone receptor interactor 11
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
WDPCP WD repeat containing planar cell polarity effector
ZBTB14 zinc finger and BTB domain containing 14
ZFPM2 zinc finger protein, FOG family member 2
ZIC3 Zic family member 3