abnormal myocardial trabeculae morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the supporting bundles of muscular fibers lining the walls of the heart (Mammalian Phenotype Ontology, MP_0002189)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002189
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Genes

120 gene mutations causing the abnormal myocardial trabeculae 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
ADGRG6 adhesion G protein-coupled receptor G6
ADM adrenomedullin
ADRBK1 adrenergic, beta, receptor kinase 1
AKAP13 A kinase (PRKA) anchor protein 13
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ANGPT1 angiopoietin 1
ANKRD17 ankyrin repeat domain 17
ARID1A AT rich interactive domain 1A (SWI-like)
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP10 bone morphogenetic protein 10
BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa
CALR calreticulin
CASP8 caspase 8, apoptosis-related cysteine peptidase
CFLAR CASP8 and FADD-like apoptosis regulator
CSNK2A1 casein kinase 2, alpha 1 polypeptide
DLL4 delta-like 4 (Drosophila)
DNAH11 dynein, axonemal, heavy chain 11
EFNB2 ephrin-B2
EGLN1 egl-9 family hypoxia-inducible factor 1
EP300 E1A binding protein p300
EPHB4 EPH receptor B4
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
FADD Fas (TNFRSF6)-associated via death domain
FES FES proto-oncogene, tyrosine kinase
FGF16 fibroblast growth factor 16
FGFR2 fibroblast growth factor receptor 2
FHOD3 formin homology 2 domain containing 3
FKBP1A FK506 binding protein 1A, 12kDa
FOXH1 forkhead box H1
FOXO1 forkhead box O1
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GJA1 gap junction protein, alpha 1, 43kDa
GJC1 gap junction protein, gamma 1, 45kDa
GYS1 glycogen synthase 1 (muscle)
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
HDAC2 histone deacetylase 2
HHEX hematopoietically expressed homeobox
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
ITGAV integrin, alpha V
JARID2 jumonji, AT rich interactive domain 2
JMJD6 jumonji domain containing 6
JUP junction plakoglobin
KDM6A lysine (K)-specific demethylase 6A
KIFAP3 kinesin-associated protein 3
LATS2 large tumor suppressor kinase 2
MAP2K5 mitogen-activated protein kinase kinase 5
MAP3K3 mitogen-activated protein kinase kinase kinase 3
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK14 mitogen-activated protein kinase 14
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
MEST mesoderm specific transcript
MOSPD3 motile sperm domain containing 3
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYL7 myosin, light chain 7, regulatory
NACA nascent polypeptide-associated complex alpha subunit
NCOA6 nuclear receptor coactivator 6
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOTCH1 notch 1
NOTCH2 notch 2
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRG1 neuregulin 1
NTF3 neurotrophin 3
OVOL2 ovo-like zinc finger 2
PDCD10 programmed cell death 10
PDLIM3 PDZ and LIM domain 3
PDPN podoplanin
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKP2 plakophilin 2
POR P450 (cytochrome) oxidoreductase
PPARG peroxisome proliferator-activated receptor gamma
PTPRB protein tyrosine phosphatase, receptor type, B
PTPRJ protein tyrosine phosphatase, receptor type, J
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
RYR2 ryanodine receptor 2 (cardiac)
SCN5A sodium channel, voltage gated, type V alpha subunit
SH3PXD2B SH3 and PX domains 2B
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
SOS1 son of sevenless homolog 1 (Drosophila)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 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
TMOD1 tropomodulin 1
TTN titin
TXNRD2 thioredoxin reductase 2
UBE4B ubiquitination factor E4B
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