increased heart ventricle size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description increased average size of the heart ventricles compared to the average for a particular population (Mammalian Phenotype Ontology, MP_0008772)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008772
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Genes

142 gene mutations causing the increased heart ventricle size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACKR3 atypical chemokine receptor 3
ADAM17 ADAM metallopeptidase domain 17
ADAM19 ADAM metallopeptidase domain 19
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ADORA2A adenosine A2a receptor
ADRA2B adrenoceptor alpha 2B
AP2B1 adaptor-related protein complex 2, beta 1 subunit
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP4 bone morphogenetic protein 4
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CASQ2 calsequestrin 2 (cardiac muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CHGA chromogranin A
CHRD chordin
CKM creatine kinase, muscle
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric)
CNOT3 CCR4-NOT transcription complex, subunit 3
COL1A1 collagen, type I, alpha 1
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNNA3 catenin (cadherin-associated protein), alpha 3
DES desmin
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
EDN1 endothelin 1
EGFR epidermal growth factor receptor
EPO erythropoietin
FBLN5 fibulin 5
FBN1 fibrillin 1
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FKBP1A FK506 binding protein 1A, 12kDa
FKBP1B FK506 binding protein 1B, 12.6 kDa
FOXJ1 forkhead box J1
GAA glucosidase, alpha; acid
GAB1 GRB2-associated binding protein 1
GATA5 GATA binding protein 5
GLA galactosidase, alpha
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
HBEGF heparin-binding EGF-like growth factor
HDAC9 histone deacetylase 9
HEXIM1 hexamethylene bis-acetamide inducible 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HIF3A hypoxia inducible factor 3, alpha subunit
HMGA1 high mobility group AT-hook 1
HMOX1 heme oxygenase 1
HOXA1 homeobox A1
HRAS Harvey rat sarcoma viral oncogene homolog
HSPB8 heat shock 22kDa protein 8
IDUA iduronidase, alpha-L-
IER3 immediate early response 3
IFT172 intraflagellar transport 172
IGF2R insulin-like growth factor 2 receptor
INS insulin
IRX4 iroquois homeobox 4
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KLF15 Kruppel-like factor 15
KLF3 Kruppel-like factor 3 (basic)
LAMA4 laminin, alpha 4
LDB3 LIM domain binding 3
LEP leptin
LEPR leptin receptor
LMNA lamin A/C
LOX lysyl oxidase
LRP2 low density lipoprotein receptor-related protein 2
MAPK7 mitogen-activated protein kinase 7
MB myoglobin
MEF2A myocyte enhancer factor 2A
MOSPD3 motile sperm domain containing 3
MUS81 MUS81 structure-specific endonuclease subunit
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYLK3 myosin light chain kinase 3
MYOZ2 myozenin 2
NCOR1 nuclear receptor corepressor 1
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NGF nerve growth factor (beta polypeptide)
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPPA natriuretic peptide A
NPR1 natriuretic peptide receptor 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
PDC phosducin
PDGFA platelet-derived growth factor alpha polypeptide
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
PFKM phosphofructokinase, muscle
PHC1 polyhomeotic homolog 1 (Drosophila)
PIKFYVE phosphoinositide kinase, FYVE finger containing
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLAT plasminogen activator, tissue
PLAU plasminogen activator, urokinase
PLCE1 phospholipase C, epsilon 1
PNPLA2 patatin-like phospholipase domain containing 2
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RNLS renalase, FAD-dependent amine oxidase
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
RXRA retinoid X receptor, alpha
RYR2 ryanodine receptor 2 (cardiac)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3D sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D
SIRT1 sirtuin 1
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLIT3 slit homolog 3 (Drosophila)
SMTN smoothelin
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SSR1 signal sequence receptor, alpha
TAL1 T-cell acute lymphocytic leukemia 1
TBX2 T-box 2
TERC telomerase RNA component
TGFB2 transforming growth factor, beta 2
THBS4 thrombospondin 4
TIMP4 TIMP metallopeptidase inhibitor 4
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TTN titin
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFB vascular endothelial growth factor B
VIP vasoactive intestinal peptide
ZMPSTE24 zinc metallopeptidase STE24