trabecula carnea hypoplasia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description underdevelopment or reduced size of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart, usually due to a reduced number of cells (Mammalian Phenotype Ontology, MP_0000295)
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46 gene mutations causing the trabecula carnea hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADRBK1 adrenergic, beta, receptor kinase 1
ANKRD17 ankyrin repeat domain 17
BMP10 bone morphogenetic protein 10
CALR calreticulin
CSNK2A1 casein kinase 2, alpha 1 polypeptide
DLL4 delta-like 4 (Drosophila)
FADD Fas (TNFRSF6)-associated via death domain
FGF16 fibroblast growth factor 16
FOXH1 forkhead box H1
GYS1 glycogen synthase 1 (muscle)
ITGAV integrin, alpha V
JARID2 jumonji, AT rich interactive domain 2
JUP junction plakoglobin
LATS2 large tumor suppressor kinase 2
MAP3K3 mitogen-activated protein kinase kinase kinase 3
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
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYL7 myosin, light chain 7, regulatory
NCOA6 nuclear receptor coactivator 6
NODAL nodal growth differentiation factor
NOTCH1 notch 1
NRG1 neuregulin 1
PDLIM3 PDZ and LIM domain 3
PKP2 plakophilin 2
RBP4 retinol binding protein 4, plasma
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RXRA retinoid X receptor, alpha
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMYD1 SET and MYND domain containing 1
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TGFB2 transforming growth factor, beta 2
TGFBR3 transforming growth factor, beta receptor III
TTN titin
TXNRD2 thioredoxin reductase 2
UBP1 upstream binding protein 1 (LBP-1a)
WASF2 WAS protein family, member 2
WNK1 WNK lysine deficient protein kinase 1
ZFP36L1 ZFP36 ring finger protein-like 1