abnormal heart left ventricle size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly of the average size of the left ventricle compared to the average for a particular population (Mammalian Phenotype Ontology, MP_0010578)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010578
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Genes

85 gene mutations causing the abnormal heart left 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
ADAM17 ADAM metallopeptidase domain 17
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
AGTR2 angiotensin II receptor, type 2
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
CASQ2 calsequestrin 2 (cardiac muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CHGA chromogranin A
CKM creatine kinase, muscle
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric)
CNOT3 CCR4-NOT transcription complex, subunit 3
COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
EGFR epidermal growth factor receptor
EPO erythropoietin
FKBP1B FK506 binding protein 1B, 12.6 kDa
FOXJ1 forkhead box J1
FOXM1 forkhead box M1
GAA glucosidase, alpha; acid
GATA5 GATA binding protein 5
GBE1 glucan (1,4-alpha-), branching enzyme 1
GLA galactosidase, alpha
HDAC9 histone deacetylase 9
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HMGA1 high mobility group AT-hook 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSPB8 heat shock 22kDa protein 8
IDUA iduronidase, alpha-L-
IER3 immediate early response 3
INS insulin
IRX4 iroquois homeobox 4
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KLF15 Kruppel-like factor 15
LAMA4 laminin, alpha 4
LDB3 LIM domain binding 3
LEP leptin
LEPR leptin receptor
LOX lysyl oxidase
LRP2 low density lipoprotein receptor-related protein 2
MAPK7 mitogen-activated protein kinase 7
MB myoglobin
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
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
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPPA natriuretic peptide A
NTF3 neurotrophin 3
PDLIM5 PDZ and LIM domain 5
PFKM phosphofructokinase, muscle
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLAT plasminogen activator, tissue
PLAU plasminogen activator, urokinase
PNPLA2 patatin-like phospholipase domain containing 2
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)
RYR2 ryanodine receptor 2 (cardiac)
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMTN smoothelin
SOS1 son of sevenless homolog 1 (Drosophila)
TAL1 T-cell acute lymphocytic leukemia 1
TERC telomerase RNA component
THBS4 thrombospondin 4
TIMP4 TIMP metallopeptidase inhibitor 4
TLR2 toll-like receptor 2
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