abnormal heart left ventricle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the left lower chamber of the heart (Mammalian Phenotype Ontology, MP_0003921)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003921
Similar Terms
Downloads & Tools

Genes

184 gene mutations causing the abnormal heart left ventricle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ACE2 angiotensin I converting enzyme 2
ACKR3 atypical chemokine receptor 3
ADAM17 ADAM metallopeptidase domain 17
ADAM19 ADAM metallopeptidase domain 19
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ADIPOQ adiponectin, C1Q and collagen domain containing
ADM adrenomedullin
ADRA1B adrenoceptor alpha 1B
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKAP12 A kinase (PRKA) anchor protein 12
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
CCL13 chemokine (C-C motif) ligand 13
CHGA chromogranin A
CKM creatine kinase, muscle
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric)
CNOT3 CCR4-NOT transcription complex, subunit 3
COX1
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
CXADR coxsackie virus and adenovirus receptor
CXCR4 chemokine (C-X-C motif) receptor 4
DAAM1 dishevelled associated activator of morphogenesis 1
DCTN5 dynactin 5 (p25)
DES desmin
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
EFNA1 ephrin-A1
EFNB2 ephrin-B2
EGFR epidermal growth factor receptor
ELN elastin
EPO erythropoietin
F2R coagulation factor II (thrombin) receptor
FBN1 fibrillin 1
FGF16 fibroblast growth factor 16
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
FOXC1 forkhead box C1
FOXH1 forkhead box H1
FOXJ1 forkhead box J1
FOXM1 forkhead box M1
GAA glucosidase, alpha; acid
GAB1 GRB2-associated binding protein 1
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GBE1 glucan (1,4-alpha-), branching enzyme 1
GJA1 gap junction protein, alpha 1, 43kDa
GLA galactosidase, alpha
HAND2 heart and neural crest derivatives expressed 2
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
HMGA1 high mobility group AT-hook 1
HOXA1 homeobox A1
HOXA3 homeobox A3
HRAS Harvey rat sarcoma viral oncogene homolog
HSPB8 heat shock 22kDa protein 8
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IER3 immediate early response 3
IGF2R insulin-like growth factor 2 receptor
IL18 interleukin 18
IL6 interleukin 6
INS insulin
INVS inversin
IRX4 iroquois homeobox 4
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JARID2 jumonji, AT rich interactive domain 2
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KL klotho
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
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAPK7 mitogen-activated protein kinase 7
MB myoglobin
MEGF8 multiple EGF-like-domains 8
MGP matrix Gla protein
MIR208A microRNA 208a
MMP2 matrix metallopeptidase 2
MUS81 MUS81 structure-specific endonuclease subunit
MYBPC3 myosin binding protein C, cardiac
MYH10 myosin, heavy chain 10, non-muscle
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
MYLK3 myosin light chain kinase 3
MYOZ2 myozenin 2
NCF1 neutrophil cytosolic factor 1
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
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NGF nerve growth factor (beta polypeptide)
NKX2-5 NK2 homeobox 5
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
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
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)
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
POLG polymerase (DNA directed), gamma
PRDM1 PR domain containing 1, with ZNF domain
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RB1CC1 RB1-inducible coiled-coil 1
RBM20 RNA binding motif protein 20
RNLS renalase, FAD-dependent amine oxidase
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
RYR2 ryanodine receptor 2 (cardiac)
SCN5A sodium channel, voltage gated, type V alpha subunit
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMTN smoothelin
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SPP1 secreted phosphoprotein 1
SSR1 signal sequence receptor, alpha
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TAL1 T-cell acute lymphocytic leukemia 1
TBX20 T-box 20
TBX5 T-box 5
TERC telomerase RNA component
TGFB2 transforming growth factor, beta 2
THBS4 thrombospondin 4
TIMP3 TIMP metallopeptidase inhibitor 3
TIMP4 TIMP metallopeptidase inhibitor 4
TLR2 toll-like receptor 2
TNNT2 troponin T type 2 (cardiac)
TRIM54 tripartite motif containing 54
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TTN titin
TXNIP thioredoxin interacting protein
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VCAN versican
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WRN Werner syndrome, RecQ helicase-like
XIRP2 xin actin binding repeat containing 2
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta
ZFPM2 zinc finger protein, FOG family member 2
ZMPSTE24 zinc metallopeptidase STE24