dilated heart left ventricle Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description the luminal space of the lower left chamber of the heart is increased in volume or area, usually with an increase in contained fluid (Mammalian Phenotype Ontology, MP_0002753)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002753
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Genes

62 gene mutations causing the dilated heart left ventricle phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACE2 angiotensin I converting enzyme 2
ADIPOQ adiponectin, C1Q and collagen domain containing
AGTR2 angiotensin II receptor, type 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CHGA chromogranin A
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric)
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
DES desmin
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FKBP1A FK506 binding protein 1A, 12kDa
GAA glucosidase, alpha; acid
GAB1 GRB2-associated binding protein 1
GJA1 gap junction protein, alpha 1, 43kDa
HAND2 heart and neural crest derivatives expressed 2
HBEGF heparin-binding EGF-like growth factor
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HOXA3 homeobox A3
IGF2R insulin-like growth factor 2 receptor
IL6 interleukin 6
KLF15 Kruppel-like factor 15
LAMA4 laminin, alpha 4
LDB3 LIM domain binding 3
LMNA lamin A/C
MMP2 matrix metallopeptidase 2
MYBPC3 myosin binding protein C, cardiac
MYH11 myosin, heavy chain 11, smooth muscle
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYL7 myosin, light chain 7, regulatory
MYOZ2 myozenin 2
NCF1 neutrophil cytosolic factor 1
NGF nerve growth factor (beta polypeptide)
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPR1 natriuretic peptide receptor 1
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PAX3 paired box 3
PDGFB platelet-derived growth factor beta polypeptide
PDLIM3 PDZ and LIM domain 3
PDLIM5 PDZ and LIM domain 5
PLCE1 phospholipase C, epsilon 1
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
PTGER4 prostaglandin E receptor 4 (subtype EP4)
RB1CC1 RB1-inducible coiled-coil 1
SCN5A sodium channel, voltage gated, type V alpha subunit
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SOD2 superoxide dismutase 2, mitochondrial
SSR1 signal sequence receptor, alpha
TBX20 T-box 20
TIMP3 TIMP metallopeptidase inhibitor 3
TTN titin
VCAN versican
YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta
ZMPSTE24 zinc metallopeptidase STE24