abnormal heart ventricle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of one or both of the two lower chambers of the heart (Mammalian Phenotype Ontology, MP_0005294)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005294
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Genes

450 gene mutations causing the abnormal heart 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
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACE2 angiotensin I converting enzyme 2
ACKR3 atypical chemokine receptor 3
ACVR2B activin A receptor, type IIB
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
ADAM19 ADAM metallopeptidase domain 19
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ADGRG6 adhesion G protein-coupled receptor G6
ADIPOQ adiponectin, C1Q and collagen domain containing
ADM adrenomedullin
ADORA2A adenosine A2a receptor
ADRA1B adrenoceptor alpha 1B
ADRA2B adrenoceptor alpha 2B
ADRBK1 adrenergic, beta, receptor kinase 1
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIP aryl hydrocarbon receptor interacting protein
AKAP12 A kinase (PRKA) anchor protein 12
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ANKRD17 ankyrin repeat domain 17
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
AP2B1 adaptor-related protein complex 2, beta 1 subunit
ARID1A AT rich interactive domain 1A (SWI-like)
ARMC4 armadillo repeat containing 4
ATE1 arginyltransferase 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCL6 B-cell CLL/lymphoma 6
BICC1 BicC family RNA binding protein 1
BIN1 bridging integrator 1
BMP10 bone morphogenetic protein 10
BMP4 bone morphogenetic protein 4
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
C5ORF42 chromosome 5 open reading frame 42
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CALR calreticulin
CAPN2 calpain 2, (m/II) large subunit
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASQ2 calsequestrin 2 (cardiac muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CC2D2A coiled-coil and C2 domain containing 2A
CCDC39 coiled-coil domain containing 39
CCL13 chemokine (C-C motif) ligand 13
CEP290 centrosomal protein 290kDa
CFC1 cripto, FRL-1, cryptic family 1
CHD7 chromodomain helicase DNA binding protein 7
CHGA chromogranin A
CHRD chordin
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CKM creatine kinase, muscle
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric)
CLU clusterin
CNOT3 CCR4-NOT transcription complex, subunit 3
CNTRL centriolin
COL1A1 collagen, type I, alpha 1
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
COX1
COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
CREBBP CREB binding protein
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNNA3 catenin (cadherin-associated protein), alpha 3
CXADR coxsackie virus and adenovirus receptor
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
CYR61 cysteine-rich, angiogenic inducer, 61
DAAM1 dishevelled associated activator of morphogenesis 1
DAND5 DAN domain family member 5, BMP antagonist
DAW1 dynein assembly factor with WDR repeat domains 1
DCTN5 dynactin 5 (p25)
DES desmin
DHRS3 dehydrogenase/reductase (SDR family) member 3
DLC1 DLC1 Rho GTPase activating protein
DLL4 delta-like 4 (Drosophila)
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNM2 dynamin 2
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK1 dedicator of cytokinesis 1
DRC1 dynein regulatory complex subunit 1
DVL2 dishevelled segment polarity protein 2
DYX1C1 dyslexia susceptibility 1 candidate 1
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
EFNA1 ephrin-A1
EFNB2 ephrin-B2
EGFR epidermal growth factor receptor
EGLN1 egl-9 family hypoxia-inducible factor 1
ELN elastin
ENG endoglin
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
EPO erythropoietin
EPOR erythropoietin receptor
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB4 erb-b2 receptor tyrosine kinase 4
ESR2 estrogen receptor 2 (ER beta)
F2R coagulation factor II (thrombin) receptor
FADD Fas (TNFRSF6)-associated via death domain
FBLN1 fibulin 1
FBLN5 fibulin 5
FBN1 fibrillin 1
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FES FES proto-oncogene, tyrosine kinase
FGF16 fibroblast growth factor 16
FGF19 fibroblast growth factor 19
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FKBP1A FK506 binding protein 1A, 12kDa
FKBP1B FK506 binding protein 1B, 12.6 kDa
FLNA filamin A, alpha
FLRT2 fibronectin leucine rich transmembrane protein 2
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXH1 forkhead box H1
FOXJ1 forkhead box J1
FOXM1 forkhead box M1
FOXP1 forkhead box P1
FUZ fuzzy planar cell polarity protein
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
GBX2 gastrulation brain homeobox 2
GDF1 growth differentiation factor 1
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GJC1 gap junction protein, gamma 1, 45kDa
GLA galactosidase, alpha
GPC3 glypican 3
GRHL2 grainyhead-like 2 (Drosophila)
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GYS1 glycogen synthase 1 (muscle)
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
HBEGF heparin-binding EGF-like growth factor
HDAC2 histone deacetylase 2
HDAC7 histone deacetylase 7
HDAC9 histone deacetylase 9
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HEG1 heart development protein with EGF-like domains 1
HEXIM1 hexamethylene bis-acetamide inducible 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHEX hematopoietically expressed homeobox
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIF3A hypoxia inducible factor 3, alpha subunit
HMGA1 high mobility group AT-hook 1
HMOX1 heme oxygenase 1
HOPX HOP homeobox
HOXA1 homeobox A1
HOXA13 homeobox A13
HOXA3 homeobox A3
HOXB4 homeobox B4
HRAS Harvey rat sarcoma viral oncogene homolog
HSPB11 heat shock protein family B (small), member 11
HSPB8 heat shock 22kDa protein 8
HSPG2 heparan sulfate proteoglycan 2
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
IDUA iduronidase, alpha-L-
IER3 immediate early response 3
IFT172 intraflagellar transport 172
IFT88 intraflagellar transport 88
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IGHMBP2 immunoglobulin mu binding protein 2
IL18 interleukin 18
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
INS insulin
INVS inversin
IRX4 iroquois homeobox 4
ISL1 ISL LIM homeobox 1
ITGAV integrin, alpha V
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB8 integrin, beta 8
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JARID2 jumonji, AT rich interactive domain 2
JMJD6 jumonji domain containing 6
JUN jun proto-oncogene
JUP junction plakoglobin
KAT6A K(lysine) acetyltransferase 6A
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KDM6A lysine (K)-specific demethylase 6A
KIDINS220 kinase D-interacting substrate, 220kDa
KIF7 kinesin family member 7
KIFAP3 kinesin-associated protein 3
KL klotho
KLF15 Kruppel-like factor 15
KLF3 Kruppel-like factor 3 (basic)
KLK3 kallikrein-related peptidase 3
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA4 laminin, alpha 4
LATS2 large tumor suppressor kinase 2
LBX1 ladybird homeobox 1
LDB3 LIM domain binding 3
LEFTY1 left-right determination factor 1
LEFTY2 left-right determination factor 2
LEP leptin
LEPR leptin receptor
LIN28A lin-28 homolog A (C. elegans)
LMNA lamin A/C
LOX lysyl oxidase
LRP1 low density lipoprotein receptor-related protein 1
LRP2 low density lipoprotein receptor-related protein 2
LTBP1 latent transforming growth factor beta binding protein 1
LTBP4 latent transforming growth factor beta binding protein 4
LUZP1 leucine zipper protein 1
LY6E lymphocyte antigen 6 complex, locus E
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAP3K3 mitogen-activated protein kinase kinase kinase 3
MAPK11 mitogen-activated protein kinase 11
MAPK7 mitogen-activated protein kinase 7
MB myoglobin
MECOM MDS1 and EVI1 complex locus
MED1 mediator complex subunit 1
MED24 mediator complex subunit 24
MEF2A myocyte enhancer factor 2A
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MEN1 multiple endocrine neoplasia I
MGP matrix Gla protein
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MIR208A microRNA 208a
MIR22 microRNA 22
MKL1 megakaryoblastic leukemia (translocation) 1
MKL2 MKL/myocardin-like 2
MMP2 matrix metallopeptidase 2
MMP21 matrix metallopeptidase 21
MMP9 matrix metallopeptidase 9
MOSPD3 motile sperm domain containing 3
MUS81 MUS81 structure-specific endonuclease subunit
MYBPC3 myosin binding protein C, cardiac
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
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
NACA nascent polypeptide-associated complex alpha subunit
NCF1 neutrophil cytosolic factor 1
NCOA6 nuclear receptor coactivator 6
NCOR1 nuclear receptor corepressor 1
NCOR2 nuclear receptor corepressor 2
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
NEK8 NIMA-related kinase 8
NF1 neurofibromin 1
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NGF nerve growth factor (beta polypeptide)
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NOV nephroblastoma overexpressed
NPPA natriuretic peptide A
NPPB natriuretic peptide B
NPR1 natriuretic peptide receptor 1
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRG1 neuregulin 1
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
NXN nucleoredoxin
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OSR1 odd-skipped related transciption factor 1
OVOL2 ovo-like zinc finger 2
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PARD3 par-3 family cell polarity regulator
PAX3 paired box 3
PBRM1 polybromo 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PCSK6 proprotein convertase subtilisin/kexin type 6
PDC phosducin
PDCD1 programmed cell death 1
PDGFA platelet-derived growth factor alpha polypeptide
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDLIM3 PDZ and LIM domain 3
PDLIM5 PDZ and LIM domain 5
PDPN podoplanin
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PEPD peptidase D
PFKM phosphofructokinase, muscle
PHC1 polyhomeotic homolog 1 (Drosophila)
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIKFYVE phosphoinositide kinase, FYVE finger containing
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKP2 plakophilin 2
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLAGL1 pleiomorphic adenoma gene-like 1
PLAT plasminogen activator, tissue
PLAU plasminogen activator, urokinase
PLCE1 phospholipase C, epsilon 1
PLIN5 perilipin 5
PLVAP plasmalemma vesicle associated protein
PNMT phenylethanolamine N-methyltransferase
PNN pinin, desmosome associated protein
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POR P450 (cytochrome) oxidoreductase
PPARG peroxisome proliferator-activated receptor gamma
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRDM1 PR domain containing 1, with ZNF domain
PRDM16 PR domain containing 16
PRICKLE1 prickle homolog 1 (Drosophila)
PSEN1 presenilin 1
PTCD2 pentatricopeptide repeat domain 2
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RB1CC1 RB1-inducible coiled-coil 1
RBM20 RNA binding motif protein 20
RBP4 retinol binding protein 4, plasma
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RERE arginine-glutamic acid dipeptide (RE) repeats
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RHEB Ras homolog enriched in brain
RIPPLY3 ripply transcriptional repressor 3
RNF4 ring finger protein 4
RNLS renalase, FAD-dependent amine oxidase
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2
RPSA ribosomal protein SA
RTEL1 regulator of telomere elongation helicase 1
RXRA retinoid X receptor, alpha
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
SALL4 spalt-like transcription factor 4
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEC24B SEC24 family member B
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SEMA3D sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SH3PXD2B SH3 and PX domains 2B
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SIRT1 sirtuin 1
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
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
SLIT3 slit homolog 3 (Drosophila)
SMAD6 SMAD family member 6
SMAD7 SMAD family member 7
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMTN smoothelin
SMYD1 SET and MYND domain containing 1
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SOX4 SRY (sex determining region Y)-box 4
SPEG SPEG complex locus
SPP1 secreted phosphoprotein 1
SPTBN1 spectrin, beta, non-erythrocytic 1
SRSF10 serine/arginine-rich splicing factor 10
SSR1 signal sequence receptor, alpha
SUFU suppressor of fused homolog (Drosophila)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TAL1 T-cell acute lymphocytic leukemia 1
TBX1 T-box 1
TBX2 T-box 2
TBX20 T-box 20
TBX3 T-box 3
TBX5 T-box 5
TCEB3 transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)
TCTN2 tectonic family member 2
TDG thymine-DNA glycosylase
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TEK TEK tyrosine kinase, endothelial
TERC telomerase RNA component
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TGFBR3 transforming growth factor, beta receptor III
TH tyrosine hydroxylase
THBS1 thrombospondin 1
THBS4 thrombospondin 4
TIMP3 TIMP metallopeptidase inhibitor 3
TIMP4 TIMP metallopeptidase inhibitor 4
TLL1 tolloid-like 1
TLR2 toll-like receptor 2
TMEM100 transmembrane protein 100
TMEM67 transmembrane protein 67
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TRIM54 tripartite motif containing 54
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase
TRIP11 thyroid hormone receptor interactor 11
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TSC2 tuberous sclerosis 2
TTN titin
TXNIP thioredoxin interacting protein
TXNRD2 thioredoxin reductase 2
UBP1 upstream binding protein 1 (LBP-1a)
VANGL2 VANGL planar cell polarity protein 2
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VCAM1 vascular cell adhesion molecule 1
VCAN versican
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VEGFB vascular endothelial growth factor B
VIP vasoactive intestinal peptide
WASF2 WAS protein family, member 2
WDPCP WD repeat containing planar cell polarity effector
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNK1 WNK lysine deficient protein kinase 1
WRN Werner syndrome, RecQ helicase-like
XBP1 X-box binding protein 1
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
ZBTB14 zinc finger and BTB domain containing 14
ZFP36L1 ZFP36 ring finger protein-like 1
ZFPM2 zinc finger protein, FOG family member 2
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24