abnormal heart right ventricle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the right lower chamber of the heart (Mammalian Phenotype Ontology, MP_0003920)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003920
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Genes

126 gene mutations causing the abnormal heart right ventricle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ACKR3 atypical chemokine receptor 3
ADAM17 ADAM metallopeptidase domain 17
ADAM19 ADAM metallopeptidase domain 19
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ADORA2A adenosine A2a receptor
ADRA2B adrenoceptor alpha 2B
AP2B1 adaptor-related protein complex 2, beta 1 subunit
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP4 bone morphogenetic protein 4
C5ORF42 chromosome 5 open reading frame 42
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CFC1 cripto, FRL-1, cryptic family 1
CHRD chordin
CNTRL centriolin
COL1A1 collagen, type I, alpha 1
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CXCR4 chemokine (C-X-C motif) receptor 4
DES desmin
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DOCK1 dedicator of cytokinesis 1
EDN1 endothelin 1
EFNB2 ephrin-B2
EPO erythropoietin
FBLN5 fibulin 5
FBN1 fibrillin 1
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFRL1 fibroblast growth factor receptor-like 1
FKBP1A FK506 binding protein 1A, 12kDa
FLNA filamin A, alpha
FOXC1 forkhead box C1
FOXH1 forkhead box H1
FOXJ1 forkhead box J1
FUZ fuzzy planar cell polarity protein
GAA glucosidase, alpha; acid
GAB1 GRB2-associated binding protein 1
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GJA1 gap junction protein, alpha 1, 43kDa
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
HBEGF heparin-binding EGF-like growth factor
HDAC2 histone deacetylase 2
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHEX hematopoietically expressed homeobox
HIF3A hypoxia inducible factor 3, alpha subunit
HMOX1 heme oxygenase 1
HOXA1 homeobox A1
HOXA3 homeobox A3
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IFT172 intraflagellar transport 172
IGF2R insulin-like growth factor 2 receptor
ISL1 ISL LIM homeobox 1
KLF3 Kruppel-like factor 3 (basic)
LDB3 LIM domain binding 3
LEFTY2 left-right determination factor 2
LMNA lamin A/C
LOX lysyl oxidase
LRP2 low density lipoprotein receptor-related protein 2
MAPK7 mitogen-activated protein kinase 7
MEF2A myocyte enhancer factor 2A
MEGF8 multiple EGF-like-domains 8
MOSPD3 motile sperm domain containing 3
MYH10 myosin, heavy chain 10, non-muscle
MYLK3 myosin light chain kinase 3
MYOZ2 myozenin 2
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NEK8 NIMA-related kinase 8
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NGF nerve growth factor (beta polypeptide)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPPA natriuretic peptide A
NPR1 natriuretic peptide receptor 1
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PAX3 paired box 3
PDGFA platelet-derived growth factor alpha polypeptide
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDLIM3 PDZ and LIM domain 3
PHC1 polyhomeotic homolog 1 (Drosophila)
PIKFYVE phosphoinositide kinase, FYVE finger containing
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLCE1 phospholipase C, epsilon 1
PNPLA2 patatin-like phospholipase domain containing 2
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
RAMP2 receptor (G protein-coupled) activity modifying protein 2
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
RPSA ribosomal protein SA
RXRA retinoid X receptor, alpha
RYR2 ryanodine receptor 2 (cardiac)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SIRT1 sirtuin 1
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLIT3 slit homolog 3 (Drosophila)
SMAD6 SMAD family member 6
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SSR1 signal sequence receptor, alpha
TDG thymine-DNA glycosylase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TIMP4 TIMP metallopeptidase inhibitor 4
TMEM67 transmembrane protein 67
TRIP11 thyroid hormone receptor interactor 11
VCAN versican
VEGFB vascular endothelial growth factor B
VIP vasoactive intestinal peptide
WDPCP WD repeat containing planar cell polarity effector
XIRP2 xin actin binding repeat containing 2
ZFPM2 zinc finger protein, FOG family member 2
ZMPSTE24 zinc metallopeptidase STE24