abnormal ventricle myocardium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the ventricular part of middle layer of the heart, comprised of involuntary muscle (Mammalian Phenotype Ontology, MP_0010499)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010499
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Genes

90 gene mutations causing the abnormal ventricle myocardium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
ADRBK1 adrenergic, beta, receptor kinase 1
ANKRD17 ankyrin repeat domain 17
ATE1 arginyltransferase 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BMP10 bone morphogenetic protein 10
CALR calreticulin
CSNK2A1 casein kinase 2, alpha 1 polypeptide
DES desmin
DLL4 delta-like 4 (Drosophila)
EGLN1 egl-9 family hypoxia-inducible factor 1
EP300 E1A binding protein p300
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB4 erb-b2 receptor tyrosine kinase 4
FADD Fas (TNFRSF6)-associated via death domain
FBLN1 fibulin 1
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FGF16 fibroblast growth factor 16
FGFR2 fibroblast growth factor receptor 2
FKBP1A FK506 binding protein 1A, 12kDa
FLRT2 fibronectin leucine rich transmembrane protein 2
FOXH1 forkhead box H1
FOXM1 forkhead box M1
FOXP1 forkhead box P1
GATA4 GATA binding protein 4
GJA1 gap junction protein, alpha 1, 43kDa
GJC1 gap junction protein, gamma 1, 45kDa
GYS1 glycogen synthase 1 (muscle)
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
ITGAV integrin, alpha V
JARID2 jumonji, AT rich interactive domain 2
JUP junction plakoglobin
KLF3 Kruppel-like factor 3 (basic)
LATS2 large tumor suppressor kinase 2
MAP3K3 mitogen-activated protein kinase kinase kinase 3
MAPK11 mitogen-activated protein kinase 11
MAPK7 mitogen-activated protein kinase 7
MECOM MDS1 and EVI1 complex locus
MED1 mediator complex subunit 1
MED24 mediator complex subunit 24
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MEN1 multiple endocrine neoplasia I
MOSPD3 motile sperm domain containing 3
MYBPC3 myosin binding protein C, cardiac
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYL7 myosin, light chain 7, regulatory
NCOA6 nuclear receptor coactivator 6
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOTCH1 notch 1
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRG1 neuregulin 1
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PDLIM3 PDZ and LIM domain 3
PIKFYVE phosphoinositide kinase, FYVE finger containing
PKP2 plakophilin 2
POR P450 (cytochrome) oxidoreductase
PPARG peroxisome proliferator-activated receptor gamma
RB1CC1 RB1-inducible coiled-coil 1
RBP4 retinol binding protein 4, plasma
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RXRA retinoid X receptor, alpha
SCN5A sodium channel, voltage gated, type V alpha subunit
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMAD7 SMAD family member 7
SMYD1 SET and MYND domain containing 1
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TEK TEK tyrosine kinase, endothelial
TGFB2 transforming growth factor, beta 2
TGFBR3 transforming growth factor, beta receptor III
TMEM100 transmembrane protein 100
TTN titin
TXNRD2 thioredoxin reductase 2
UBP1 upstream binding protein 1 (LBP-1a)
VEGFA vascular endothelial growth factor A
WASF2 WAS protein family, member 2
WNK1 WNK lysine deficient protein kinase 1
XBP1 X-box binding protein 1
XIRP2 xin actin binding repeat containing 2
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZFP36L1 ZFP36 ring finger protein-like 1
ZFPM2 zinc finger protein, FOG family member 2