dilated heart ventricle Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description the luminal space of the lower chambers of the heart is increased in volume or area, usually with an increase in contained fluid (Mammalian Phenotype Ontology, MP_0008022)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008022
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Genes

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

Symbol Name
ACE2 angiotensin I converting enzyme 2
ACKR3 atypical chemokine receptor 3
ADAM19 ADAM metallopeptidase domain 19
ADGRG6 adhesion G protein-coupled receptor G6
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRA2B adrenoceptor alpha 2B
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
BCL6 B-cell CLL/lymphoma 6
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
EDN1 endothelin 1
ESR2 estrogen receptor 2 (ER beta)
FBLN5 fibulin 5
FBN1 fibrillin 1
FES FES proto-oncogene, tyrosine kinase
FGF16 fibroblast growth factor 16
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
HMOX1 heme oxygenase 1
HOXA3 homeobox A3
HOXB4 homeobox B4
IGF2R insulin-like growth factor 2 receptor
IGHMBP2 immunoglobulin mu binding protein 2
IL6 interleukin 6
KLF15 Kruppel-like factor 15
LAMA4 laminin, alpha 4
LDB3 LIM domain binding 3
LMNA lamin A/C
LTBP4 latent transforming growth factor beta binding protein 4
MEF2A myocyte enhancer factor 2A
MIR22 microRNA 22
MKL1 megakaryoblastic leukemia (translocation) 1
MMP2 matrix metallopeptidase 2
MOSPD3 motile sperm domain containing 3
MYBPC3 myosin binding protein C, cardiac
MYH11 myosin, heavy chain 11, smooth muscle
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYL2 myosin, light chain 2, regulatory, cardiac, slow
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
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NRG1 neuregulin 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
PDCD1 programmed cell death 1
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDLIM3 PDZ and LIM domain 3
PDLIM5 PDZ and LIM domain 5
PHC1 polyhomeotic homolog 1 (Drosophila)
PIKFYVE phosphoinositide kinase, FYVE finger containing
PLCE1 phospholipase C, epsilon 1
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PTGER4 prostaglandin E receptor 4 (subtype EP4)
RB1CC1 RB1-inducible coiled-coil 1
RXRA retinoid X receptor, alpha
SCN5A sodium channel, voltage gated, type V alpha subunit
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
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
SPEG SPEG complex locus
SSR1 signal sequence receptor, alpha
TBX20 T-box 20
TGFB2 transforming growth factor, beta 2
TIMP3 TIMP metallopeptidase inhibitor 3
TTN titin
VCAN versican
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta
ZMPSTE24 zinc metallopeptidase STE24